ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5061G>C (p.Lys1687Asn)

dbSNP: rs754404501
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001344542 SCV001538602 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-09-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003284234 SCV004007851 uncertain significance Cardiovascular phenotype 2023-06-01 criteria provided, single submitter clinical testing The p.K1687N variant (also known as c.5061G>C), located in coding exon 23 of the DSP gene, results from a G to C substitution at nucleotide position 5061. The lysine at codon 1687 is replaced by asparagine, 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.
All of Us Research Program, National Institutes of Health RCV004005194 SCV004826407 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-08-28 criteria provided, single submitter clinical testing This missense variant replaces lysine with asparagine at codon 1687 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 1/250802 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.

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