ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.31C>T (p.Pro11Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798194 SCV000937796 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate B 2018-11-07 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 11 of the DNM2 protein (p.Pro11Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with DNM2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
