Submissions for variant NM_000343.4(SLC5A1):c.765C>G (p.Cys255Trp)

dbSNP: rs888909415

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Baylor Genetics	RCV001283761	SCV001521345	pathogenic	Congenital glucose-galactose malabsorption	2020-02-16	criteria provided, single submitter	clinical testing	This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as disease-causing [PMID: 12139397, 28753187]
GeneDx	RCV002225822	SCV002504256	pathogenic	not provided	2022-02-01	criteria provided, single submitter	clinical testing	Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In addition, in silico splice predictors suggest this variant may lead to abnormal gene splicing; This variant is associated with the following publications: (PMID: 12139397, 28753187)
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV001283761	SCV004805139	pathogenic	Congenital glucose-galactose malabsorption	2024-03-17	criteria provided, single submitter	research
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV001283761	SCV001469130	pathogenic	Congenital glucose-galactose malabsorption	2020-08-07	no assertion criteria provided	clinical testing