ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3526G>T (p.Val1176Phe)

gnomAD frequency: 0.00001  dbSNP: rs1261167694
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001185924 SCV001352235 uncertain significance Cardiomyopathy 2019-11-17 criteria provided, single submitter clinical testing This missense variant replaces valine with phenylalanine at codon 1176 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). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified 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.
All of Us Research Program, National Institutes of Health RCV004008564 SCV004822071 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-08-13 criteria provided, single submitter clinical testing This missense variant replaces valine with phenylalanine at codon 1176 of the DSP protein. Computational prediction suggests that this variant may not impact protein structure and function. 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 not been identified 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 RCV004994295 SCV005575873 uncertain significance Cardiovascular phenotype 2024-06-26 criteria provided, single submitter clinical testing The p.V1176F variant (also known as c.3526G>T), located in coding exon 23 of the DSP gene, results from a G to T substitution at nucleotide position 3526. The valine at codon 1176 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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