ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1141-2A>G

dbSNP: rs794728111
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181281 SCV000233571 likely pathogenic not provided 2019-02-11 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Canonical splice site variant predicted to destroy the splice acceptor site of intron 9 result in adjacent exon 10 being in-frame; Has not been previously published as pathogenic or benign to our knowledge
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations RCV002286571 SCV002576373 likely pathogenic Arrhythmogenic right ventricular dysplasia 9 2022-09-27 criteria provided, single submitter clinical testing We observed a heterozygous c.1141-2A>G genetic variant in the DSP gene in a 34-y.o. proband, diagnosed with arrhythmogenic right ventricular cardiomyopathy. This variant is not present in LOVD database, not observed at significant frequency in large population cohorts (gnomAD v2.1.1). In silico resources classify the c.1141-2A>G variant as probably pathogenic. It is predicted to disrupt canonical splice site in mRNA. ClinVar contains an entry for this variant (Variation ID: 199856). Loss-of-function variants in the DSP gene are known to be pathogenic (PMID: 27532257, 35474678, 35151254, 34343150). We assume that this variant could be classified as Likely Pathogenic.

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