ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.40T>A (p.Trp14Arg)

dbSNP: rs756863825
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000703959 SCV000832889 pathogenic Renal carnitine transport defect 2021-10-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Trp14 amino acid residue in SLC22A5. Other variant(s) that disrupt this residue have been determined to be pathogenic (Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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 expected to disrupt SLC22A5 protein function. ClinVar contains an entry for this variant (Variation ID: 580421). This variant has been observed in individual(s) with primary carnitine deficiency (PMID: 32371215). This variant is not present in population databases (ExAC no frequency). This sequence change replaces tryptophan with arginine at codon 14 of the SLC22A5 protein (p.Trp14Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine.
Natera, Inc. RCV002226488 SCV002075430 uncertain significance Decreased circulating carnitine concentration 2021-04-28 no assertion criteria provided clinical testing
Natera, Inc. RCV000703959 SCV002107415 uncertain significance Renal carnitine transport defect 2021-04-28 no assertion criteria provided clinical testing

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