ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.9150G>T (p.Gln3050His)

dbSNP: rs1352900858
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001067582 SCV001232650 uncertain significance Duchenne muscular dystrophy 2019-12-30 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with DMD-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with histidine at codon 3050 of the DMD protein (p.Gln3050His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine.
Natera, Inc. RCV001833654 SCV002080192 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-07-24 no assertion criteria provided clinical testing

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