ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1112A>G (p.Asp371Gly)

gnomAD frequency: 0.00001  dbSNP: rs770239678
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001229200 SCV001401638 uncertain significance Duchenne muscular dystrophy 2024-02-23 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 371 of the DMD protein (p.Asp371Gly). This variant is present in population databases (rs770239678, gnomAD 0.004%). 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: 956406). 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 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.
Athena Diagnostics RCV001288593 SCV001475839 uncertain significance not provided 2020-08-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004032661 SCV003564441 uncertain significance Cardiovascular phenotype 2021-04-29 criteria provided, single submitter clinical testing The c.1112A>G (p.D371G) alteration is located in exon 10 (coding exon 10) of the DMD gene. This alteration results from a A to G substitution at nucleotide position 1112, causing the aspartic acid (D) at amino acid position 371 to be replaced by a glycine (G). Based on data from the Genome Aggregation Database (gnomAD) database, the DMD c.1112A>G alteration was observed in 0.0005% (1/183,353) of total alleles studied. This amino acid position is not well conserved in available vertebrate species. The p.D371G alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001836178 SCV002090408 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-09-04 no assertion criteria provided clinical testing

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