ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5840A>G (p.Tyr1947Cys)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002353286 SCV002648400 uncertain significance Cardiovascular phenotype 2021-01-06 criteria provided, single submitter clinical testing The p.Y1947C variant (also known as c.5840A>G), located in coding exon 24 of the DSP gene, results from an A to G substitution at nucleotide position 5840. The tyrosine at codon 1947 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species, and cysteine is the reference amino acid in other vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003096890 SCV003493018 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-08-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005706 SCV004824672 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-09-23 criteria provided, single submitter clinical testing This missense variant replaces tyrosine with cysteine at codon 1947 of the DSP protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with DSP-related disorders in the literature. This variant has been identified in 2/250676 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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