ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4666A>G (p.Ile1556Val)

gnomAD frequency: 0.00001  dbSNP: rs530647574
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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 RCV001187157 SCV001353855 uncertain significance Cardiomyopathy 2022-07-28 criteria provided, single submitter clinical testing This missense variant replaces isoleucine with valine at codon 1556 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 3/250228 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 RCV002339473 SCV002638110 uncertain significance Cardiovascular phenotype 2022-04-25 criteria provided, single submitter clinical testing The p.I1556V variant (also known as c.4666A>G), located in coding exon 23 of the DSP gene, results from an A to G substitution at nucleotide position 4666. The isoleucine at codon 1556 is replaced by valine, an amino acid with highly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002559969 SCV003027104 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-01-06 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008678 SCV004826272 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-05-30 criteria provided, single submitter clinical testing This missense variant replaces isoleucine with valine at codon 1556 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 3/250228 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.

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