ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1144C>T (p.His382Tyr)

dbSNP: rs1556876180
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658243 SCV000780014 uncertain significance not provided 2018-05-14 criteria provided, single submitter clinical testing The H382Y variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The H382Y variant is not observed in large population cohorts (Lek et al., 2016). This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect.
Labcorp Genetics (formerly Invitae), Labcorp RCV002534277 SCV002981803 uncertain significance Duchenne muscular dystrophy 2024-11-11 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 382 of the DMD protein (p.His382Tyr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 546378). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt DMD protein function with a negative predictive value of 95%. 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.
Natera, Inc. RCV001829821 SCV002090403 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2021-10-05 no assertion criteria provided clinical testing

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