ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3444T>A (p.Cys1148Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002466871 SCV002761717 pathogenic Primary dilated cardiomyopathy 2022-02-09 criteria provided, single submitter clinical testing The DSP c.3444T>A variant is classified as Pathogenic (PVS1, PM2, PP1_Moderate) The DSP c.3444T>A variant is a single nucleotide change which is predicted to result in premature termination of the protein product at codon 1148. The resultant mRNA product is expected to undergo nonsense mediated decay. Truncating variants in DSP are significantly enriched in patients with DCM compared with controls (EF=0.98) and there is a strong gene-disease validity per ClinGen review 2020. This is further supported by a paper in pre-print specific to DSP truncating variants (Hoorntje / Ingles et al. pers.comm) (PVS1). This variant is absent from population databases (PM2). This variant has not been reported in dbSNP, ClinVar or HGMD. Segregation testing of affected family members confirmed this variant segregates with disease in 4 individuals in this family (PP1_Moderate).

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