ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2735T>C (p.Leu912Ser)

gnomAD frequency: 0.00004  dbSNP: rs765831604
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001180240 SCV001345119 uncertain significance Cardiomyopathy 2022-02-03 criteria provided, single submitter clinical testing This missense variant replaces leucine with serine at codon 912 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 9/251354 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.
Revvity Omics, Revvity Omics RCV003490098 SCV004234415 uncertain significance not provided 2023-05-18 criteria provided, single submitter clinical testing

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