ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1013A>T (p.Asp338Val)

dbSNP: rs1575206365
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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 RCV003182046 SCV003859501 uncertain significance Cardiovascular phenotype 2023-02-16 criteria provided, single submitter clinical testing The p.D338V variant (also known as c.1013A>T), located in coding exon 5 of the CYP27A1 gene, results from an A to T substitution at nucleotide position 1013. The aspartic acid at codon 338 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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