Submissions for variant NM_183075.3(CYP2U1):c.5C>T (p.Ser2Leu)

dbSNP: rs550088634

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001240846	SCV001413822	likely benign	Spastic paraplegia	2023-11-13	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002298912	SCV002599034	uncertain significance	not specified	2022-09-08	criteria provided, single submitter	clinical testing	Variant summary: CYP2U1 c.5C>T (p.Ser2Leu) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00025 in 150810 control chromosomes (gnomAD v3.1.2). To our knowledge, no occurrence of c.5C>T in individuals affected with Hereditary Spastic Paraplegia 56 and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter has assessed the variant since 2014: the variant was classified as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
PreventionGenetics, part of Exact Sciences	RCV003908462	SCV004718919	likely benign	CYP2U1-related disorder	2023-01-10	criteria provided, single submitter	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).
CeGaT Center for Human Genetics Tuebingen	RCV004584868	SCV005075167	uncertain significance	not provided	2024-06-01	criteria provided, single submitter	clinical testing	CYP2U1: PM2, PP2