ClinVar Miner

Submissions for variant NM_014476.6(PDLIM3):c.547G>C (p.Val183Leu)

gnomAD frequency: 0.00003  dbSNP: rs765318874
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000548484 SCV000623886 uncertain significance Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 2017-03-12 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change replaces valine with leucine at codon 183 of the PDLIM3 protein (p.Val183Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. This variant is present in population databases (rs765318874, ExAC 0.01%) but has not been reported in the literature in individuals with a PDLIM3-related disease.

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