ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5066T>C (p.Ile1689Thr)

gnomAD frequency: 0.00003  dbSNP: rs869025394
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208263 SCV000263875 uncertain significance Primary dilated cardiomyopathy 2015-10-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001297580 SCV001486605 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345748 SCV002645925 uncertain significance Cardiovascular phenotype 2020-08-13 criteria provided, single submitter clinical testing The p.I1689T variant (also known as c.5066T>C), located in coding exon 23 of the DSP gene, results from a T to C substitution at nucleotide position 5066. The isoleucine at codon 1689 is replaced by threonine, an amino acid with similar properties. This amino acid position is 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.
All of Us Research Program, National Institutes of Health RCV003997681 SCV004822098 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-08-30 criteria provided, single submitter clinical testing This missense variant replaces isoleucine with threonine at codon 1689 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 3/282190 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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