ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.7919C>G (p.Ala2640Gly)

gnomAD frequency: 0.00008  dbSNP: rs146020545
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726250 SCV000343180 uncertain significance not provided 2016-06-23 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000341637 SCV000613136 uncertain significance not specified 2017-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000527970 SCV000625961 likely benign Duchenne muscular dystrophy 2025-01-30 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV001270144 SCV001449041 uncertain significance Primary dilated cardiomyopathy 2019-12-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV003343745 SCV004058232 uncertain significance Cardiovascular phenotype 2023-07-12 criteria provided, single submitter clinical testing The p.A2640G variant (also known as c.7919C>G), located in coding exon 54 of the DMD gene, results from a C to G substitution at nucleotide position 7919. The alanine at codon 2640 is replaced by glycine, an amino acid with similar properties. Based on data from gnomAD, the G allele has an overall frequency of 0.0044% (9/205307) total alleles studied, with 2 hemizygote(s) observed. The highest observed frequency was 0.0097% (9/92647) of European (non-Finnish) alleles. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001833386 SCV002087722 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-01-24 no assertion criteria provided clinical testing

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