ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7184G>A (p.Gly2395Asp)

gnomAD frequency: 0.00002  dbSNP: rs777930834
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Total submissions: 3
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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 RCV000769240 SCV000900616 uncertain significance Cardiomyopathy 2023-06-09 criteria provided, single submitter clinical testing
Invitae RCV001855980 SCV002145452 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002370029 SCV002662835 uncertain significance Cardiovascular phenotype 2021-12-13 criteria provided, single submitter clinical testing The p.G2395D variant (also known as c.7184G>A), located in coding exon 24 of the DSP gene, results from a G to A substitution at nucleotide position 7184. The glycine at codon 2395 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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