ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4021C>T (p.Arg1341Cys)

gnomAD frequency: 0.00001  dbSNP: rs547568275
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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 RCV001191850 SCV001359765 uncertain significance Cardiomyopathy 2022-12-03 criteria provided, single submitter clinical testing This missense variant replaces arginine with cysteine at codon 1341 of the DSP protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, 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 not been identified 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.
GeneDx RCV001586034 SCV001812664 uncertain significance not provided 2020-10-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 928163; Landrum et al., 2016); Not observed at a significance frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Ambry Genetics RCV002375114 SCV002625543 uncertain significance Cardiovascular phenotype 2021-04-27 criteria provided, single submitter clinical testing The p.R1341C variant (also known as c.4021C>T), located in coding exon 23 of the DSP gene, results from a C to T substitution at nucleotide position 4021. The arginine at codon 1341 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species; however, cysteine is the reference amino acid in other 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.
Invitae RCV003770169 SCV004569886 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-10-13 criteria provided, single submitter clinical testing

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