ClinVar Miner

Submissions for variant NM_004820.5(CYP7B1):c.350A>C (p.Lys117Thr)

gnomAD frequency: 0.00016  dbSNP: rs138977616
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731165 SCV000858943 uncertain significance not provided 2017-12-26 criteria provided, single submitter clinical testing
Baylor Genetics RCV001335196 SCV001528284 uncertain significance Congenital bile acid synthesis defect 3 2018-08-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV002535194 SCV003458739 uncertain significance Spastic paraplegia 2022-03-28 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 117 of the CYP7B1 protein (p.Lys117Thr). This variant is present in population databases (rs138977616, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CYP7B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 595578). 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: "Tolerated"; PolyPhen-2: "Possibly 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.

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