ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.965A>G (p.Lys322Arg)

gnomAD frequency: 0.00001  dbSNP: rs757098196
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000772513 SCV000905692 uncertain significance Cardiomyopathy 2019-11-24 criteria provided, single submitter clinical testing This missense variant replaces lysine with arginine at codon 322 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 3/250998 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.
Invitae RCV001856018 SCV002310196 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003307405 SCV003996576 uncertain significance Cardiovascular phenotype 2023-05-21 criteria provided, single submitter clinical testing The p.K322R variant (also known as c.965A>G), located in coding exon 8 of the DSP gene, results from an A to G substitution at nucleotide position 965. The lysine at codon 322 is replaced by arginine, an amino acid with highly 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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