ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1840A>G (p.Ser614Gly)

dbSNP: rs1986952876
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061623 SCV001226371 uncertain significance Arrhythmogenic right ventricular dysplasia 11 2019-05-15 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with DSC2-related conditions. This sequence change replaces serine with glycine at codon 614 of the DSC2 protein (p.Ser614Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine.
Color Diagnostics, LLC DBA Color Health RCV001177493 SCV001341718 likely benign Cardiomyopathy 2019-06-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030429 SCV003583297 uncertain significance Cardiovascular phenotype 2021-09-16 criteria provided, single submitter clinical testing The c.1840A>G (p.S614G) alteration is located in exon 12 (coding exon 12) of the DSC2 gene. This alteration results from a A to G substitution at nucleotide position 1840, causing the serine (S) at amino acid position 614 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004000121 SCV004816118 likely benign Familial isolated arrhythmogenic right ventricular dysplasia 2023-06-26 criteria provided, single submitter clinical testing

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