ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.502G>A (p.Gly168Ser)

dbSNP: rs1308747530
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001186754 SCV001353332 uncertain significance Cardiomyopathy 2020-06-30 criteria provided, single submitter clinical testing This missense variant replaces glycine with serine at codon 168 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 1/251294 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 RCV002559946 SCV003460460 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-05-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004807410 SCV005428789 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-07-10 criteria provided, single submitter clinical testing This missense variant replaces glycine with serine at codon 168 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 1/251294 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 RCV004994298 SCV005575878 uncertain significance Cardiovascular phenotype 2024-07-04 criteria provided, single submitter clinical testing The p.G168S variant (also known as c.502G>A), located in coding exon 4 of the DSP gene, results from a G to A substitution at nucleotide position 502. The glycine at codon 168 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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