ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4808G>A (p.Arg1603Lys)

gnomAD frequency: 0.00002  dbSNP: rs869025393
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208078 SCV000263874 uncertain significance Left ventricular noncompaction cardiomyopathy 2015-12-01 criteria provided, single submitter clinical testing
Invitae RCV001347430 SCV001541689 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-12-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336577 SCV002634745 uncertain significance Cardiovascular phenotype 2021-04-30 criteria provided, single submitter clinical testing The p.R1603K variant (also known as c.4808G>A), located in coding exon 23 of the DSP gene, results from a G to A substitution at nucleotide position 4808. The arginine at codon 1603 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and lysine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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