ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.919G>T (p.Val307Leu)

gnomAD frequency: 0.00002  dbSNP: rs779794737
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000290127 SCV000332648 uncertain significance not provided 2015-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001341973 SCV001535870 uncertain significance Cholestanol storage disease 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 307 of the CYP27A1 protein (p.Val307Leu). This variant is present in population databases (rs779794737, gnomAD 0.02%). 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: 281718). 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.
GeneDx RCV000290127 SCV002547187 uncertain significance not provided 2022-01-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV000290127 SCV005409023 uncertain significance not provided 2023-07-06 criteria provided, single submitter clinical testing BP4
Natera, Inc. RCV001341973 SCV002078790 uncertain significance Cholestanol storage disease 2019-11-11 no assertion criteria provided clinical testing

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