ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3269A>T (p.Gln1090Leu)

gnomAD frequency: 0.00005  dbSNP: rs747239076
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176480 SCV000228144 uncertain significance not provided 2014-09-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001257067 SCV000751555 likely benign Duchenne muscular dystrophy 2024-08-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004537401 SCV004115265 uncertain significance DMD-related disorder 2023-03-30 criteria provided, single submitter clinical testing The DMD c.3269A>T variant is predicted to result in the amino acid substitution p.Gln1090Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.021% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/X-32482710-T-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001832009 SCV002085472 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-04-29 no assertion criteria provided clinical testing

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