ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.10830G>A (p.Thr3610=)

dbSNP: rs113604000
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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 RCV000951736 SCV001098165 likely benign Duchenne muscular dystrophy 2023-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV003380792 SCV004097133 uncertain significance Cardiovascular phenotype 2023-07-31 criteria provided, single submitter clinical testing The c.10830G>A variant (also known as p.T3610T), located in coding exon 76 of the DMD gene, results from a G to A substitution at nucleotide position 10830. This nucleotide substitution does not change the threonine at codon 3610. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001832199 SCV002077580 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-04-27 no assertion criteria provided clinical testing

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