Submissions for variant NM_000343.4(SLC5A1):c.35C>T (p.Ala12Val)

gnomAD frequency: 0.00086  dbSNP: rs150288967

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000593428	SCV000708740	likely benign	not specified	2017-05-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001150307	SCV001311327	uncertain significance	Congenital glucose-galactose malabsorption	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae	RCV001150307	SCV001722293	benign	Congenital glucose-galactose malabsorption	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003424166	SCV004154910	uncertain significance	not provided	2023-02-01	criteria provided, single submitter	clinical testing	SLC5A1: PM2:Supporting, PP4, BP4