Submissions for variant NM_003060.4(SLC22A5):c.254G>A (p.Arg85Gln)

gnomAD frequency: 0.00001  dbSNP: rs761608940

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001326543	SCV001517577	uncertain significance	Renal carnitine transport defect	2022-04-04	criteria provided, single submitter	clinical testing	This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 85 of the SLC22A5 protein (p.Arg85Gln). This variant is present in population databases (rs761608940, gnomAD 0.03%). 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: 1026131). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SLC22A5 protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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	RCV001326543	SCV002576700	uncertain significance	Renal carnitine transport defect	2022-10-03	criteria provided, single submitter	research
Natera, Inc.	RCV002226539	SCV002078288	uncertain significance	Decreased circulating carnitine concentration	2020-05-28	no assertion criteria provided	clinical testing
Natera, Inc.	RCV001326543	SCV002107411	uncertain significance	Renal carnitine transport defect	2020-05-28	no assertion criteria provided	clinical testing