ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.888C>G (p.Tyr296Ter)

dbSNP: rs149701627
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181280 SCV000233570 likely pathogenic not provided 2020-06-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease
Color Diagnostics, LLC DBA Color Health RCV001176346 SCV001340310 pathogenic Cardiomyopathy 2019-01-16 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 7 of the DSP gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of DSP function is a known mechanism of disease. Based on available evidence, this variant is classified as Pathogenic.
Invitae RCV001237792 SCV001410568 pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2021-03-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DSP are known to be pathogenic (PMID: 20716751, 24503780, 25227139). This variant has not been reported in the literature in individuals with DSP-related conditions. ClinVar contains an entry for this variant (Variation ID: 199855). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr296*) in the DSP gene. It is expected to result in an absent or disrupted protein product.

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