ClinVar Miner

Submissions for variant NM_014476.6(PDLIM3):c.683C>T (p.Pro228Leu)

gnomAD frequency: 0.00014  dbSNP: rs201185673
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619173 SCV000739910 uncertain significance Cardiovascular phenotype 2013-10-29 criteria provided, single submitter clinical testing The p.P228L variant (also known as c.683C>T) is located in coding exon 6 of the PDLIM3 gene. This alteration results from a C to T substitution at nucleotide position 683. The proline at codon 228 is replaced by leucine, an amino acid with similar properties.This variant was previously reported in the SNPDatabase as rs201185673. Based on data from the NHLBI Exome Sequencing Project (ESP), the T-allele has an overall frequency of approximately 0.01% (1/13,006), having not been observed in 4406 of African American alleles, and observed in 0.01% (1/8600) of European American alleles studied. This variant was not observed in the 1000 Genomes Project.This amino acid position is not conserved on sequence alignment.This variant is predicted to be benign by PolyPhen and tolerated by SIFT in silico analyses. Since supporting evidence is limited at this time, the clinical significance of p.P228L remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000629182 SCV000750098 benign Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 2024-12-18 criteria provided, single submitter clinical testing
GeneDx RCV001756013 SCV002005522 likely benign not provided 2020-03-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25351510)

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