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: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621473 SCV000736252 uncertain significance Cardiovascular phenotype 2016-05-09 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. Based on data from ExAC (Exome Aggregation Consortium, Cambridge, MA (URL: http://exac.broadinstitute.org) [accessed 4/29/16]), the A allele has an overall frequency of approximately <0.01% (1/105769). This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. 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.
Invitae 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

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