ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3836C>T (p.Ala1279Val)

gnomAD frequency: 0.00006  dbSNP: rs753270443
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482301 SCV000565794 uncertain significance not provided 2022-04-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Color Diagnostics, LLC DBA Color Health RCV001187855 SCV001354751 uncertain significance Cardiomyopathy 2022-10-11 criteria provided, single submitter clinical testing This missense variant replaces alanine with valine at codon 1279 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 cardiovascular disorders in the literature. This variant has been identified in 17/282254 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.
Invitae RCV001219231 SCV001391158 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367625 SCV002626006 uncertain significance Cardiovascular phenotype 2021-09-07 criteria provided, single submitter clinical testing The p.A1279V variant (also known as c.3836C>T), located in coding exon 23 of the DSP gene, results from a C to T substitution at nucleotide position 3836. The alanine at codon 1279 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. 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 RCV002481501 SCV002781582 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 2021-10-01 criteria provided, single submitter clinical testing

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