ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5839T>C (p.Tyr1947His)

gnomAD frequency: 0.00004  dbSNP: rs767259019
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687198 SCV000814752 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-05-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352121 SCV002647749 uncertain significance Cardiovascular phenotype 2021-10-12 criteria provided, single submitter clinical testing The p.Y1947H variant (also known as c.5839T>C), located in coding exon 24 of the DSP gene, results from a T to C substitution at nucleotide position 5839. The tyrosine at codon 1947 is replaced by histidine, an amino acid with similar properties. This amino acid position is not well conserved in available 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.
Fulgent Genetics, Fulgent Genetics RCV002493150 SCV002789434 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 2021-09-14 criteria provided, single submitter clinical testing

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