ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2780C>T (p.Ala927Val)

gnomAD frequency: 0.00003  dbSNP: rs41312094
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001202745 SCV001373871 likely benign Duchenne muscular dystrophy 2024-08-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812246 SCV002050039 uncertain significance not provided 2021-03-10 criteria provided, single submitter clinical testing The DMD c.2780C>T; p.Ala927Val variant (rs41312094), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 934369). This variant is found in the non-Finnish European population with an allele frequency of .0043% (4/92234 alleles, including 2 hemizygotes) in the Genome Aggregation Database. The alanine at codon 927 is moderately conserved, but computational analyses predict that this variant is neutral (REVEL: 0.027). However, given the lack of clinical and functional data, the significance of the p.Ala927Val variant is uncertain at this time.
Ambry Genetics RCV004609653 SCV005108240 likely benign Cardiovascular phenotype 2024-06-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001828627 SCV002089674 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-07-12 no assertion criteria provided clinical testing

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