ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1456A>T (p.Met486Leu)

dbSNP: rs150585977
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001434529 SCV001637338 likely benign Cholestanol storage disease 2025-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395995 SCV002696914 uncertain significance Cardiovascular phenotype 2023-09-22 criteria provided, single submitter clinical testing The p.M486L variant (also known as c.1456A>T), located in coding exon 8 of the CYP27A1 gene, results from an A to T substitution at nucleotide position 1456. The methionine at codon 486 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003151857 SCV003840562 uncertain significance not provided 2022-09-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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