Submissions for variant NM_003060.4(SLC22A5):c.1252C>T (p.Gln418Ter)

dbSNP: rs1057518297

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000414129	SCV000491808	pathogenic	not provided	2016-11-15	criteria provided, single submitter	clinical testing	The Q418X nonsense variant in the SLC22A5 gene is predicted to cause loss of normal proteinfunction either through protein truncation or nonsense-mediated mRNA decay. It is not observed inlarge population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome VariantServer). Although this variant has not been reported previously to our knowledge, it is interpreted tobe a pathogenic variant.
Invitae	RCV000541077	SCV000632515	pathogenic	Renal carnitine transport defect	2021-03-26	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in SLC22A5 are known to be pathogenic (PMID: 25132046). This sequence change creates a premature translational stop signal at codon 418 (p.Gln418*) of the SLC22A5 gene. It is expected to result in an absent or disrupted protein product.
Revvity Omics, Revvity	RCV000541077	SCV002020644	pathogenic	Renal carnitine transport defect	2021-06-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000541077	SCV002055825	pathogenic	Renal carnitine transport defect	2021-07-15	criteria provided, single submitter	clinical testing
Counsyl	RCV000541077	SCV001132288	likely pathogenic	Renal carnitine transport defect	2015-03-31	no assertion criteria provided	clinical testing
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital	RCV000541077	SCV004800876	pathogenic	Renal carnitine transport defect		no assertion criteria provided	clinical testing	PVS1+PM2_P+PM3+PP4