ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7648G>C (p.Gly2550Arg)

dbSNP: rs781151826
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001900902 SCV002159991 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-12-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003401843 SCV004112043 uncertain significance DSP-related disorder 2023-01-30 criteria provided, single submitter clinical testing The DSP c.7648G>C variant is predicted to result in the amino acid substitution p.Gly2550Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-7585143-G-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
All of Us Research Program, National Institutes of Health RCV004804287 SCV005424596 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-03-05 criteria provided, single submitter clinical testing

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