Submissions for variant NM_004820.5(CYP7B1):c.59C>T (p.Pro20Leu)

dbSNP: rs537303950

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000205382	SCV000259219	likely benign	Spastic paraplegia	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000512932	SCV000609308	uncertain significance	not provided	2024-05-01	criteria provided, single submitter	clinical testing	CYP7B1: PM2:Supporting
Athena Diagnostics	RCV000512932	SCV001145781	uncertain significance	not provided	2021-12-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001163749	SCV001325819	uncertain significance	Hereditary spastic paraplegia 5A	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Mayo Clinic Laboratories, Mayo Clinic	RCV000512932	SCV001713467	uncertain significance	not provided	2021-11-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003955222	SCV004770297	likely benign	CYP7B1-related disorder	2022-01-31	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).