ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1078G>T (p.Ala360Ser)

dbSNP: rs121913000
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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 RCV002027221 SCV002308967 uncertain significance Desmin-related myofibrillar myopathy 2022-02-06 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. This variant disrupts the p.Ala360 amino acid residue in DES. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9697706). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). This missense change has been observed in individual(s) with left ventricular noncompaction (PMID: 28798025). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 360 of the DES protein (p.Ala360Ser).
Fulgent Genetics, Fulgent Genetics RCV002486738 SCV002794536 uncertain significance Dilated cardiomyopathy 1I; Desmin-related myofibrillar myopathy; Neurogenic scapuloperoneal syndrome, Kaeser type 2021-09-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003146490 SCV003829059 uncertain significance not provided 2020-01-14 criteria provided, single submitter clinical testing
GeneDx RCV003146490 SCV003935844 uncertain significance not provided 2023-06-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Identified in a patient with LVNC who also harbored a variant in the LDB3 gene (Miszalski-Jamka et al., 2017); This variant is associated with the following publications: (PMID: 28798025)

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