ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.613A>G (p.Met205Val)

gnomAD frequency: 0.00004  dbSNP: rs147321244
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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) RCV000733752 SCV000861849 uncertain significance not provided 2018-06-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001337168 SCV001530759 uncertain significance Cholestanol storage disease 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 205 of the CYP27A1 protein (p.Met205Val). This variant is present in population databases (rs147321244, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CYP27A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 597585). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CYP27A1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004027074 SCV003909876 uncertain significance Cardiovascular phenotype 2023-03-13 criteria provided, single submitter clinical testing The c.613A>G (p.M205V) alteration is located in exon 3 (coding exon 3) of the CYP27A1 gene. This alteration results from a A to G substitution at nucleotide position 613, causing the methionine (M) at amino acid position 205 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001337168 SCV002078775 uncertain significance Cholestanol storage disease 2019-11-11 no assertion criteria provided clinical testing

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