ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.517A>T (p.Thr173Ser)

gnomAD frequency: 0.00002  dbSNP: rs1372912970
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000822091 SCV000962877 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-08-16 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 664078). This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 173 of the DSP protein (p.Thr173Ser). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DSP-related conditions.
CeGaT Center for Human Genetics Tuebingen RCV000998519 SCV001154624 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001191893 SCV001359818 uncertain significance Cardiomyopathy 2019-12-30 criteria provided, single submitter clinical testing This missense variant replaces threonine with serine at codon 173 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). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 2/31396 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 RCV003169030 SCV003867559 uncertain significance Cardiovascular phenotype 2022-11-27 criteria provided, single submitter clinical testing The p.T173S variant (also known as c.517A>T), located in coding exon 4 of the DSP gene, results from an A to T substitution at nucleotide position 517. The threonine at codon 173 is replaced by serine, an amino acid with similar 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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