ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.769C>T (p.Arg257Trp)

gnomAD frequency: 0.00004  dbSNP: rs386134203
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000022344 SCV000826231 uncertain significance Renal carnitine transport defect 2022-07-20 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 257 of the SLC22A5 protein (p.Arg257Trp). This variant is present in population databases (rs386134203, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of carnitine deficiency (PMID: 20574985). This variant is also known as c.841C>T (p.Arg281Trp). ClinVar contains an entry for this variant (Variation ID: 25391). 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: 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.
Giacomini Lab, University of California, San Francisco RCV000022344 SCV002576669 uncertain significance Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV000022344 SCV002813500 uncertain significance Renal carnitine transport defect 2021-11-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV000022344 SCV004201270 pathogenic Renal carnitine transport defect 2024-03-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000022344 SCV001462810 uncertain significance Renal carnitine transport defect 2020-09-16 no assertion criteria provided clinical testing

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