ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8188del (p.Gln2730fs) (rs886038929)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245907 SCV000319213 likely pathogenic Cardiovascular phenotype 2019-02-11 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000689853 SCV000817522 uncertain significance Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2018-05-31 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the DSP gene (p.Gln2730Serfs*16). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 140 amino acids of the DSP protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with arrythmogenic right ventricular cardiomyopathy or dilated cardiomyopathy (PMID: 28527814, 27532257). ClinVar contains an entry for this variant (Variation ID: 263803). The observation of one or more missense substitutions downstream of this variant (p.Arg2834His) in affected individuals suggests that this may be a clinically significant region of the DSP protein (PMID: 16917092). 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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