ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2492A>T (p.Asn831Ile)

gnomAD frequency: 0.00001  dbSNP: rs2042985183
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066481 SCV001231492 uncertain significance Duchenne muscular dystrophy 2023-07-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DMD-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DMD protein function. ClinVar contains an entry for this variant (Variation ID: 860211). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 831 of the DMD protein (p.Asn831Ile).
Revvity Omics, Revvity RCV003145332 SCV003834729 uncertain significance not provided 2020-12-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827426 SCV002089720 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-07-16 no assertion criteria provided clinical testing

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