ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1559A>C (p.Lys520Thr)

dbSNP: rs1943774432
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001138600 SCV001298667 uncertain significance Cholestanol storage disease 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001138600 SCV003511790 uncertain significance Cholestanol storage disease 2022-06-23 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 520 of the CYP27A1 protein (p.Lys520Thr). 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: 896125). 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 RCV002559336 SCV003589563 uncertain significance Inborn genetic diseases 2021-11-09 criteria provided, single submitter clinical testing The c.1559A>C (p.K520T) alteration is located in exon 9 (coding exon 9) of the CYP27A1 gene. This alteration results from a A to C substitution at nucleotide position 1559, causing the lysine (K) at amino acid position 520 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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