ClinVar Miner

Submissions for variant NM_004820.5(CYP7B1):c.530C>T (p.Thr177Met)

gnomAD frequency: 0.00054  dbSNP: rs145152682
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000262419 SCV000342895 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
Invitae RCV001232156 SCV001404702 uncertain significance Spastic paraplegia 2022-10-04 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 177 of the CYP7B1 protein (p.Thr177Met). This variant is present in population databases (rs145152682, gnomAD 0.1%). 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: 288705). 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 CYP7B1 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.
Baylor Genetics RCV001332520 SCV001524869 uncertain significance Congenital bile acid synthesis defect 3 2020-05-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV000262419 SCV002540953 uncertain significance not provided 2021-09-15 criteria provided, single submitter clinical testing

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