ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6572G>A (p.Arg2191Lys)

dbSNP: rs527888978
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001188554 SCV001355627 uncertain significance Cardiomyopathy 2019-10-23 criteria provided, single submitter clinical testing This missense variant replaces arginine with lysine at codon 2191 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 1/251486 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002560930 SCV003447161 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-10-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033386 SCV003599648 uncertain significance Cardiovascular phenotype 2022-01-26 criteria provided, single submitter clinical testing The c.6572G>A (p.R2191K) alteration is located in exon 24 (coding exon 24) of the DSP gene. This alteration results from a G to A substitution at nucleotide position 6572, causing the arginine (R) at amino acid position 2191 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004807422 SCV005429013 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-05-14 criteria provided, single submitter clinical testing This missense variant replaces arginine with lysine at codon 2191 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 1/251486 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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