ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1564G>A (p.Val522Met)

gnomAD frequency: 0.00024  dbSNP: rs151117761
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728480 SCV000856059 uncertain significance not provided 2017-07-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001430966 SCV001633716 likely benign Cholestanol storage disease 2025-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397502 SCV002708748 uncertain significance Cardiovascular phenotype 2024-12-03 criteria provided, single submitter clinical testing The c.1564G>A (p.V522M) alteration is located in exon 9 (coding exon 9) of the CYP27A1 gene. This alteration results from a G to A substitution at nucleotide position 1564, causing the valine (V) at amino acid position 522 to be replaced by a methionine (M). The p.V522M alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV000728480 SCV005409026 uncertain significance not provided 2024-04-02 criteria provided, single submitter clinical testing PM2_moderate

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