ClinVar Miner

Submissions for variant NM_004820.5(CYP7B1):c.515C>A (p.Thr172Asn)

gnomAD frequency: 0.00004  dbSNP: rs569241534
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848385 SCV002104557 uncertain significance Hereditary spastic paraplegia 2021-02-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002034754 SCV002287045 uncertain significance Spastic paraplegia 2021-12-08 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 172 of the CYP7B1 protein (p.Thr172Asn). This variant is present in population databases (rs569241534, gnomAD 0.09%). This variant has not been reported in the literature in individuals affected with CYP7B1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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