ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.961G>C (p.Val321Leu)

gnomAD frequency: 0.00019  dbSNP: rs143994626
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426226 SCV000535064 uncertain significance not provided 2021-04-26 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# 391896; Landrum et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV000704787 SCV000833751 benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379384 SCV002694157 uncertain significance Cardiovascular phenotype 2023-01-11 criteria provided, single submitter clinical testing The p.V321L variant (also known as c.961G>C), located in coding exon 8 of the DSP gene, results from a G to C substitution at nucleotide position 961. The valine at codon 321 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is well 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 RCV003532118 SCV004363284 uncertain significance Cardiomyopathy 2023-02-06 criteria provided, single submitter clinical testing This missense variant replaces valine with leucine at codon 321 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 10/282232 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.
All of Us Research Program, National Institutes of Health RCV004000565 SCV004833413 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-09-17 criteria provided, single submitter clinical testing

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