ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7837C>G (p.Leu2613Val)

dbSNP: rs1286275087
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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 RCV001186539 SCV001352997 uncertain significance Cardiomyopathy 2023-02-09 criteria provided, single submitter clinical testing This missense variant replaces leucine with valine at codon 2613 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 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.
Invitae RCV001339967 SCV001533752 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 2613 of the DSP protein (p.Leu2613Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with DSP-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV003163449 SCV003902123 uncertain significance Inborn genetic diseases 2023-03-01 criteria provided, single submitter clinical testing The c.7837C>G (p.L2613V) alteration is located in exon 24 (coding exon 24) of the DSP gene. This alteration results from a C to G substitution at nucleotide position 7837, causing the leucine (L) at amino acid position 2613 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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