ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly)

gnomAD frequency: 0.00005  dbSNP: rs193922671
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000029683 SCV001332696 uncertain significance Cardiomyopathy 2017-11-16 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000029683 SCV001351139 uncertain significance Cardiomyopathy 2022-08-22 criteria provided, single submitter clinical testing This missense variant replaces alanine with glycine at codon 2655 of the DSP protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, 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 17/282310 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.
Baylor Genetics RCV001332449 SCV001524777 uncertain significance Arrhythmogenic right ventricular dysplasia 8 2019-06-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001506216 SCV001711135 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-09-07 criteria provided, single submitter clinical testing
GeneDx RCV000983907 SCV001993933 uncertain significance not provided 2019-07-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar (ClinVar Variant ID# 36024; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029683 SCV000052335 likely pathogenic Cardiomyopathy 2011-08-18 flagged submission curation Converted during submission to Likely pathogenic.

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