ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2985C>T (p.Gly995=)

gnomAD frequency: 0.00004  dbSNP: rs771884775
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000868248 SCV001009552 likely benign Duchenne muscular dystrophy 2024-12-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027717 SCV005021405 uncertain significance Cardiovascular phenotype 2024-02-22 criteria provided, single submitter clinical testing The c.2985C>T variant (also known as p.G995G), located in coding exon 23 of the DMD gene, results from a C to T substitution at nucleotide position 2985. This nucleotide substitution does not change the glycine at codon 995. Based on data from gnomAD, the T allele has an overall frequency of <0.01% (4/203927) total alleles studied, with 2 hemizygote(s) observed. The highest observed frequency was <0.01% (4/91699) of European (non-Finnish) alleles. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001830899 SCV002089007 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-07-01 no assertion criteria provided clinical testing

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