ClinVar Miner

Submissions for variant NM_000229.2(LCAT):c.879C>T (p.Pro293=)

gnomAD frequency: 0.00011  dbSNP: rs200225997
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001700816 SCV003475295 likely benign not provided 2025-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004995972 SCV005608015 uncertain significance Cardiovascular phenotype 2024-09-25 criteria provided, single submitter clinical testing The c.879C>T variant (also known as p.P293P), located in coding exon 6 of the LCAT gene, results from a C to T substitution at nucleotide position 879. This nucleotide substitution does not change the amino acid at codon 293. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Clinical Genetics, Academic Medical Center RCV001700816 SCV001920379 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001700816 SCV001926591 likely benign not provided no assertion criteria provided clinical testing

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