ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.226C>T (p.Gln76Ter)

dbSNP: rs1554105614
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000616141 SCV000713099 likely pathogenic Primary dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy 2017-06-13 criteria provided, single submitter clinical testing The p.Gln76X variant in DSP has not been previously reported in individuals with cardiomyopathy or in large population studies. This nonsense variant leads to a premature termination codon at position 76, which is predicted to lead to a tru ncated or absent protein. Heterozygous loss of function of the DSP gene is an es tablished disease mechanism in individuals with arrhythmogenic right ventricular cardiomyopathy, and has recently been associated with dilated cardiomyopathy. I n summary, although additional studies are required to fully establish its clini cal significance, the p.Gln76X variant is likely pathogenic.
GeneDx RCV004721473 SCV005328131 likely pathogenic not provided 2023-07-14 criteria provided, single submitter clinical testing 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; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published in association with DSP-related disorders to our knowledge; This variant is associated with the following publications: (PMID: 31638835, 31447099, 33684294)

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