Submissions for variant NM_004820.5(CYP7B1):c.522T>C (p.Ser174=)

gnomAD frequency: 0.00022  dbSNP: rs371522442

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000391244	SCV000474704	uncertain significance	Hereditary spastic paraplegia 5A	2018-01-13	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.
Eurofins Ntd Llc (ga)	RCV000593980	SCV000705748	uncertain significance	not provided	2018-05-04	criteria provided, single submitter	clinical testing
Invitae	RCV001078606	SCV000754302	likely benign	Spastic paraplegia	2024-01-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000593980	SCV002586232	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	CYP7B1: BP4, BP7