ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5383T>A (p.Ser1795Thr)

gnomAD frequency: 0.00002  dbSNP: rs764279057
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621473 SCV000736252 uncertain significance Cardiovascular phenotype 2023-12-06 criteria provided, single submitter clinical testing The p.S1795T variant (also known as c.5383T>A), located in coding exon 24 of the DSP gene, results from a T to A substitution at nucleotide position 5383. The serine at codon 1795 is replaced by threonine, 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.
Color Diagnostics, LLC DBA Color Health RCV001190257 SCV001357708 uncertain significance Cardiomyopathy 2023-07-28 criteria provided, single submitter clinical testing This missense variant replaces serine with threonine at codon 1795 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 performed for this variant. This variant has been reported in an individual affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 32659924). This variant has been identified in 3/282582 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001304150 SCV001493421 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-01-29 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002656 SCV004829695 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-08-08 criteria provided, single submitter clinical testing This missense variant replaces serine with threonine at codon 1795 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 performed for this variant. This variant has been reported in an individual affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 32659924). This variant has been identified in 3/282582 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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