ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1148T>A (p.Met383Lys)

gnomAD frequency: 0.00003  dbSNP: rs539356203
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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) RCV000712497 SCV000344239 uncertain significance not provided 2017-10-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712497 SCV000842999 uncertain significance not provided 2018-01-26 criteria provided, single submitter clinical testing
Invitae RCV001047201 SCV001211141 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 lysine, which is basic and polar, at codon 383 of the CYP27A1 protein (p.Met383Lys). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 289820). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV002519327 SCV003703721 uncertain significance Inborn genetic diseases 2021-12-15 criteria provided, single submitter clinical testing The c.1148T>A (p.M383K) alteration is located in exon 6 (coding exon 6) of the CYP27A1 gene. This alteration results from a T to A substitution at nucleotide position 1148, causing the methionine (M) at amino acid position 383 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001047201 SCV002078798 uncertain significance Cholestanol storage disease 2020-01-24 no assertion criteria provided clinical testing

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