ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.55G>A (p.Gly19Ser)

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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 RCV002344890 SCV002648272 uncertain significance Cardiovascular phenotype 2021-08-05 criteria provided, single submitter clinical testing The p.G19S variant (also known as c.55G>A), located in coding exon 1 of the CYP27A1 gene, results from a G to A substitution at nucleotide position 55. The glycine at codon 19 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003096806 SCV003486303 likely benign Cholestanol storage disease 2024-09-25 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004793781 SCV005409009 uncertain significance not provided 2024-05-09 criteria provided, single submitter clinical testing PM2_moderate

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