ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2609T>C (p.Ile870Thr)

gnomAD frequency: 0.00001  dbSNP: rs534413559
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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 RCV001177880 SCV001342173 uncertain significance Cardiomyopathy 2023-03-22 criteria provided, single submitter clinical testing This missense variant replaces isoleucine with threonine at codon 870 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 been reported in an individual affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 27532257). This variant has been identified in 1/251396 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 RCV001875865 SCV002289028 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-05-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436738 SCV002745539 uncertain significance Cardiovascular phenotype 2020-07-23 criteria provided, single submitter clinical testing The p.I870T variant (also known as c.2609T>C), located in coding exon 18 of the DSP gene, results from a T to C substitution at nucleotide position 2609. The isoleucine at codon 870 is replaced by threonine, an amino acid with similar properties. This variant was identified in one individual with arrhythmogenic right ventricular cardiomyopathy in a large study of pathogenicity of Mendelian variants in cardiomyopathy patients; however, clinical details were limited (Walsh R et al. Genet. Med., 2017 02;19:192-203). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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