ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.10975G>A (p.Val3659Met)

gnomAD frequency: 0.00002  dbSNP: rs768532317
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000460936 SCV000550272 likely benign Duchenne muscular dystrophy 2024-04-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000999364 SCV001155941 uncertain significance not provided 2024-03-01 criteria provided, single submitter clinical testing DMD: PM2
Revvity Omics, Revvity RCV000999364 SCV003830039 uncertain significance not provided 2019-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022741 SCV005021274 uncertain significance Cardiovascular phenotype 2024-01-12 criteria provided, single submitter clinical testing The p.V3659M variant (also known as c.10975G>A), located in coding exon 77 of the DMD gene, results from a G to A substitution at nucleotide position 10975. The valine at codon 3659 is replaced by methionine, an amino acid with highly similar properties. This variant (referred to as c.10606G>A, p.V3536M) has been detected in a peripartum cardiomyopathy cohort; however details were limited (Goli R et al. Circulation, 2021 May;143:1852-1862). Based on data from gnomAD, the A allele has an overall frequency of 0.0016% (3/182595) total alleles studied, with no hemizygote(s) observed. The highest observed frequency was 0.0037% (3/81346) of European (non-Finnish) alleles. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001828471 SCV002077564 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-05-12 no assertion criteria provided clinical testing

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