ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5570A>C (p.Lys1857Thr)

dbSNP: rs1178938416
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, University of Leuven RCV000497488 SCV000579558 uncertain significance Hypertrophic cardiomyopathy 2017-04-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001181053 SCV001346118 uncertain significance Cardiomyopathy 2020-01-17 criteria provided, single submitter clinical testing This missense variant replaces lysine with threonine at codon 1857 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 been identified in 1/251476 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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