ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8462_8463del (p.Ser2821fs)

dbSNP: rs2113705206
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001810338 SCV002056035 likely pathogenic not provided 2022-01-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation in a gene for which loss-of-function is a known mechanism of disease
Labcorp Genetics (formerly Invitae), Labcorp RCV001885282 SCV002267188 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2021-09-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser2821Cysfs*30) in the DSP gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 51 amino acid(s) of the DSP protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with DSP-related conditions. 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.

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