ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.47G>C (p.Arg16Pro)

dbSNP: rs752387234
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181354 SCV000233654 uncertain significance not provided 2021-02-22 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function
Invitae RCV000691756 SCV000819546 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-12-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001179622 SCV001344330 uncertain significance Cardiomyopathy 2023-05-11 criteria provided, single submitter clinical testing This missense variant replaces arginine with proline at codon 16 of the DSP protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with DSP-related disorders in the literature. This variant has been identified in 5/227516 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.
Ambry Genetics RCV002336448 SCV002636425 uncertain significance Cardiovascular phenotype 2020-02-07 criteria provided, single submitter clinical testing The p.R16P variant (also known as c.47G>C), located in coding exon 1 of the DSP gene, results from a G to C substitution at nucleotide position 47. The arginine at codon 16 is replaced by proline, 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.
Fulgent Genetics, Fulgent Genetics RCV002492801 SCV002781945 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 2021-07-27 criteria provided, single submitter clinical testing

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