ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.1948G>A (p.Glu650Lys)

dbSNP: rs2073098775
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197418 SCV001368152 pathogenic Autosomal dominant centronuclear myopathy 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic.
Invitae RCV001227100 SCV001399439 pathogenic Charcot-Marie-Tooth disease dominant intermediate B 2022-08-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects DNM2 function (PMID: 19623537, 26199319). 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 C0"). ClinVar contains an entry for this variant (Variation ID: 931135). This missense change has been observed in individuals with centronuclear myopathy (PMID: 19623537, 24465259; Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 650 of the DNM2 protein (p.Glu650Lys).
Inherited Neuropathy Consortium Ii, University Of Miami RCV001227100 SCV004174732 uncertain significance Charcot-Marie-Tooth disease dominant intermediate B 2016-01-06 no assertion criteria provided literature only

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