ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.790G>A (p.Val264Met)

gnomAD frequency: 0.00006  dbSNP: rs201500822
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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) RCV000596057 SCV000706845 uncertain significance not provided 2017-03-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001429604 SCV001632321 likely benign Cholestanol storage disease 2024-08-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024796 SCV003697673 uncertain significance Cardiovascular phenotype 2022-11-17 criteria provided, single submitter clinical testing The c.790G>A (p.V264M) alteration is located in exon 4 (coding exon 4) of the CYP27A1 gene. This alteration results from a G to A substitution at nucleotide position 790, causing the valine (V) at amino acid position 264 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV000596057 SCV005396168 uncertain significance not provided 2024-05-08 criteria provided, single submitter clinical testing In silico analysis indicates 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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