ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.1853C>A (p.Ala618Asp) (rs1555715869)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534336 SCV000640230 likely pathogenic Charcot-Marie-Tooth disease, dominant intermediate B 2017-10-16 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). This variant has been reported in a family affected with neonatal-onset centronuclear myopathy (PMID: 19932619). Is has also been observed to be de novo in an individual affected with centronuclear myopathy (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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