ClinVar Miner

Submissions for variant NM_001353214.3(DYM):c.1849G>A (p.Asp617Asn)

gnomAD frequency: 0.00001  dbSNP: rs769667648
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001769422 SCV002001305 uncertain significance not provided 2024-08-30 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001769422 SCV003028198 uncertain significance not provided 2022-05-12 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1313776). This variant has not been reported in the literature in individuals affected with DYM-related conditions. This variant is present in population databases (rs769667648, gnomAD 0.006%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 562 of the DYM protein (p.Asp562Asn).

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