ClinVar Miner

Submissions for variant NM_004820.5(CYP7B1):c.1310G>A (p.Cys437Tyr)

gnomAD frequency: 0.00001  dbSNP: rs886063072
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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 RCV000369459 SCV000474692 uncertain significance Spastic Paraplegia, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000277203 SCV000474693 uncertain significance Congenital bile acid synthesis defect 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001861330 SCV002192239 uncertain significance Spastic paraplegia 2021-10-28 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 437 of the CYP7B1 protein (p.Cys437Tyr). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 363579). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The tyrosine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.

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