ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.599A>G (p.Asn200Ser)

dbSNP: rs2470226643
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002357917 SCV002656118 uncertain significance Cardiovascular phenotype 2022-03-22 criteria provided, single submitter clinical testing The p.N200S variant (also known as c.599A>G), located in coding exon 3 of the CYP27A1 gene, results from an A to G substitution at nucleotide position 599. The asparagine at codon 200 is replaced by serine, an amino acid with highly 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.

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