Submissions for variant NM_003060.4(SLC22A5):c.325G>C (p.Glu109Gln)

dbSNP: rs1254200528

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001343448	SCV001537428	uncertain significance	Renal carnitine transport defect	2022-01-15	criteria provided, single submitter	clinical testing	This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 109 of the SLC22A5 protein (p.Glu109Gln). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with SLC22A5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1039890). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Giacomini Lab, University of California, San Francisco	RCV001343448	SCV002576716	uncertain significance	Renal carnitine transport defect	2022-10-03	criteria provided, single submitter	research
Natera, Inc.	RCV002226541	SCV002078296	uncertain significance	Decreased circulating carnitine concentration	2020-03-16	no assertion criteria provided	clinical testing
Natera, Inc.	RCV001343448	SCV002107419	uncertain significance	Renal carnitine transport defect	2020-03-16	no assertion criteria provided	clinical testing