ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5736G>T (p.Arg1912Ser)

dbSNP: rs371873840
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035055 SCV001198363 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-07-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001184388 SCV001350351 uncertain significance Cardiomyopathy 2023-10-25 criteria provided, single submitter clinical testing This missense variant replaces arginine with serine at codon 1912 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 cardiovascular disorders in the literature. This variant has been identified in 1/251196 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.
Ambry Genetics RCV002346243 SCV002650670 uncertain significance Cardiovascular phenotype 2022-09-26 criteria provided, single submitter clinical testing The p.R1912S variant (also known as c.5736G>T), located in coding exon 24 of the DSP gene, results from a G to T substitution at nucleotide position 5736. The arginine at codon 1912 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. 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.

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