ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8590T>C (p.Phe2864Leu)

gnomAD frequency: 0.00004  dbSNP: rs764514210
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001182574 SCV001348084 uncertain significance Cardiomyopathy 2023-02-02 criteria provided, single submitter clinical testing This missense variant replaces phenylalanine with leucine at codon 2864 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 4/250024 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 RCV001211171 SCV001382696 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446996 SCV002676358 uncertain significance Cardiovascular phenotype 2022-02-24 criteria provided, single submitter clinical testing The p.F2864L variant (also known as c.8590T>C), located in coding exon 24 of the DSP gene, results from a T to C substitution at nucleotide position 8590. The phenylalanine at codon 2864 is replaced by leucine, an amino acid with highly 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 RCV002497639 SCV002813362 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 2021-10-25 criteria provided, single submitter clinical testing

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