ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2037A>G (p.Ile679Met)

gnomAD frequency: 0.00012  dbSNP: rs151049942
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000457923 SCV000543261 benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-10-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588384 SCV000698421 likely benign not provided 2017-01-03 criteria provided, single submitter clinical testing Variant summary: The DSP c.2037A>G (p.Ile679Met) variant involves the alteration of a non-conserved nucleotide, which 3/3 in silico tools (SNPs&GO and MutationTaster not captured due to low reliability index and p-value, respectively) predict a benign outcome, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 5/121348 (1/24271), predominantly in the African cohort, 5/10394 (1/2079), which exceeds the estimated maximal expected allele frequency for a pathogenic DSP variant of 1/40000. Therefore, suggesting this is likely a benign polymorphism found primarily in population(s) of African origin. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Therefore, the variant of interest has been classified as "likely benign," until additional information becomes available (ie, clinical and functional studies).
Color Diagnostics, LLC DBA Color Health RCV001524121 SCV001733890 likely benign Cardiomyopathy 2020-11-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418355 SCV002723018 likely benign Cardiovascular phenotype 2019-08-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000588384 SCV003798665 uncertain significance not provided 2022-12-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function

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