ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.791C>T (p.Thr264Met)

gnomAD frequency: 0.00016  dbSNP: rs201262157
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000635346 SCV000756751 uncertain significance Renal carnitine transport defect 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 264 of the SLC22A5 protein (p.Thr264Met). This variant is present in population databases (rs201262157, gnomAD 0.04%). This missense change has been observed in individual(s) with primary carnitine deficiency and in an individual affected with cardiomyopathy (PMID: 18337137, 26828774). ClinVar contains an entry for this variant (Variation ID: 529846). 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. Experimental studies have shown that this missense change affects SLC22A5 function (PMID: 18337137, 28841266). 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.
Fulgent Genetics, Fulgent Genetics RCV000635346 SCV002800798 uncertain significance Renal carnitine transport defect 2021-10-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV002226473 SCV002078319 uncertain significance Decreased circulating carnitine concentration 2021-06-10 no assertion criteria provided clinical testing
Natera, Inc. RCV000635346 SCV002107442 uncertain significance Renal carnitine transport defect 2021-06-10 no assertion criteria provided clinical testing

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