ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1534A>G (p.Ile512Val)

gnomAD frequency: 0.00014  dbSNP: rs202025438
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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 RCV001067054 SCV001232086 benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-01-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001524522 SCV001734409 likely benign Cardiomyopathy 2021-01-11 criteria provided, single submitter clinical testing
GeneDx RCV001593246 SCV001816293 uncertain significance not provided 2020-03-12 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
Ambry Genetics RCV002393322 SCV002703897 benign Cardiovascular phenotype 2024-01-04 criteria provided, single submitter clinical testing This alteration is classified as 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224521 SCV003919894 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 2021-03-30 criteria provided, single submitter clinical testing DSP NM_004415.3 exon 12 p.Ile512Val (c.1534A>G): This variant has not been reported in the literature but is present in 0.06% (16/24956) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/6-7569533-A-G). This variant is present in ClinVar (Variation ID:860693). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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