ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.130C>T (p.Pro44Ser)

dbSNP: rs923201483
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241295 SCV001414304 uncertain significance Cholestanol storage disease 2022-05-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 44 of the CYP27A1 protein (p.Pro44Ser). This variant is not present in population databases (gnomAD no frequency). 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: 966578). 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 RCV002379924 SCV002693804 uncertain significance Cardiovascular phenotype 2022-07-06 criteria provided, single submitter clinical testing The p.P44S variant (also known as c.130C>T), located in coding exon 1 of the CYP27A1 gene, results from a C to T substitution at nucleotide position 130. The proline at codon 44 is replaced by serine, an amino acid with 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.
Natera, Inc. RCV001241295 SCV002076362 uncertain significance Cholestanol storage disease 2021-03-29 no assertion criteria provided clinical testing

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