ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.10C>T (p.Arg4Cys)

gnomAD frequency: 0.00001  dbSNP: rs1202955393
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001065343 SCV001230299 uncertain significance Charcot-Marie-Tooth disease dominant intermediate B 2022-09-01 criteria provided, single submitter clinical testing 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 859273). This variant has not been reported in the literature in individuals affected with DNM2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 4 of the DNM2 protein (p.Arg4Cys).
Revvity Omics, Revvity Omics RCV003145329 SCV003830471 uncertain significance not provided 2020-08-04 criteria provided, single submitter clinical testing

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