ClinVar Miner

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

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Total submissions: 2
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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 Myopathy, centronuclear, 1 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 2019-08-16 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 650 of the DNM2 protein (p.Glu650Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with centronuclear myopathy and to segregate with disease in a family (PMID: 19623537, 24465259, Invitae). This variant has been reported to affect DNM2 protein function (PMID: 19623537, 26199319). For these reasons, this variant has been classified as Pathogenic.

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