ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.1853C>A (p.Ala618Asp)

dbSNP: rs1555715869
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000534336 SCV000640230 pathogenic Charcot-Marie-Tooth disease dominant intermediate B 2020-10-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). This variant has been observed in several individuals affected with centronuclear myopathy including at least one individual in whom the variant was observed to be de novo (PMID: 19932619, Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with aspartic acid at codon 618 of the DNM2 protein (p.Ala618Asp). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and aspartic acid.
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001729629 SCV001976988 pathogenic Autosomal dominant centronuclear myopathy 2021-10-01 criteria provided, single submitter clinical testing PS2, PM1, PM2, PM5, PP2, PP3, PP5
Inherited Neuropathy Consortium Ii, University Of Miami RCV000534336 SCV004174762 uncertain significance Charcot-Marie-Tooth disease dominant intermediate B 2016-01-06 no assertion criteria provided literature only

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