ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8197A>T (p.Thr2733Ser)

gnomAD frequency: 0.00001  dbSNP: rs1157650702
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001963812 SCV002256009 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-03-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002425338 SCV002680101 uncertain significance Cardiovascular phenotype 2018-06-04 criteria provided, single submitter clinical testing The p.T2733S variant (also known as c.8197A>T), located in coding exon 24 of the DSP gene, results from an A to T substitution at nucleotide position 8197. The threonine at codon 2733 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available 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.
All of Us Research Program, National Institutes of Health RCV004011004 SCV004814283 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-04-03 criteria provided, single submitter clinical testing This missense variant replaces threonine with serine at codon 2733 of the DSP protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, 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 4/282810 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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