ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1973A>G (p.Asn658Ser)

gnomAD frequency: 0.00001  dbSNP: rs749183448
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001046213 SCV001210107 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-12-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001187542 SCV001354362 uncertain significance Cardiomyopathy 2023-07-28 criteria provided, single submitter clinical testing This missense variant replaces asparagine with serine at codon 658 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 been reported in one individual affected with dilated cardiomyopathy (PMID: 31983221). This variant has been identified in 6/282542 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 RCV002416368 SCV002721358 uncertain significance Cardiovascular phenotype 2022-09-06 criteria provided, single submitter clinical testing The p.N658S variant (also known as c.1973A>G), located in coding exon 15 of the DSP gene, results from an A to G substitution at nucleotide position 1973. The asparagine at codon 658 is replaced by serine, an amino acid with highly similar properties. This alteration has been reported in a dilated cardiomyopathy (DCM) cohort; however, clinical details were limited (Mazzarotto F et al. Circulation, 2020 02;141:387-398). This amino acid position is highly 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.

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