Submissions for variant NM_001902.6(CTH):c.1208G>T (p.Ser403Ile)

gnomAD frequency: 0.23572  dbSNP: rs1021737

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000331590	SCV000358904	benign	Cystathioninuria	2018-03-06	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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome-Nilou Lab	RCV000331590	SCV004049405	benign	Cystathioninuria	2023-04-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004713165	SCV005287911	benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000003075	SCV000023233	association	Homocysteine level elevated	2020-08-13	no assertion criteria provided	literature only
PreventionGenetics, part of Exact Sciences	RCV003974791	SCV004798055	likely benign	CTH-related disorder	2020-08-25	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).