ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8030A>G (p.Gln2677Arg)

gnomAD frequency: 0.00003  dbSNP: rs749806703
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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 RCV001524319 SCV001734123 uncertain significance Cardiomyopathy 2021-02-17 criteria provided, single submitter clinical testing This missense variant replaces glutamine with arginine at codon 2677 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 cardiovascular disorders in the literature. This variant has been identified in 3/282470 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.
All of Us Research Program, National Institutes of Health RCV004007273 SCV004824221 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-04-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037964 SCV005022491 uncertain significance Cardiovascular phenotype 2023-11-04 criteria provided, single submitter clinical testing The p.Q2677R variant (also known as c.8030A>G), located in coding exon 24 of the DSP gene, results from an A to G substitution at nucleotide position 8030. The glutamine at codon 2677 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005225405 SCV005864916 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-09-26 criteria provided, single submitter clinical testing

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