ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.2527C>T (p.Pro843Ser)

dbSNP: rs2146210571
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001891200 SCV002162108 uncertain significance Charcot-Marie-Tooth disease dominant intermediate B 2022-03-22 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 843 of the DNM2 protein (p.Pro843Ser). This variant has not been reported in the literature in individuals affected with DNM2-related conditions. This missense change has been observed in at least one individual who was not affected with DNM2-related conditions (Invitae). 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: "Not Available"; 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.

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