ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4793T>A (p.Leu1598Gln)

gnomAD frequency: 0.00006  dbSNP: rs369449858
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001226449 SCV001398762 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339614 SCV002638362 uncertain significance Cardiovascular phenotype 2021-03-18 criteria provided, single submitter clinical testing The p.L1598Q variant (also known as c.4793T>A), located in coding exon 23 of the DSP gene, results from a T to A substitution at nucleotide position 4793. The leucine at codon 1598 is replaced by glutamine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. 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.
All of Us Research Program, National Institutes of Health RCV004004812 SCV004843015 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-11-30 criteria provided, single submitter clinical testing

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