ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.725G>T (p.Gly242Val)

dbSNP: rs72552728
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000022340 SCV000797091 uncertain significance Renal carnitine transport defect 2018-01-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000022340 SCV001208278 pathogenic Renal carnitine transport defect 2023-11-21 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 242 of the SLC22A5 protein (p.Gly242Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with primary carnitine deficiency (PMID: 11058897). ClinVar contains an entry for this variant (Variation ID: 25387). 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 with a positive predictive value of 95%. Experimental studies have shown that this missense change affects SLC22A5 function (PMID: 11058897). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000022340 SCV002055754 likely pathogenic Renal carnitine transport defect 2021-07-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV000022340 SCV005056773 likely pathogenic Renal carnitine transport defect 2024-03-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000022340 SCV005669209 likely pathogenic Renal carnitine transport defect 2024-05-07 criteria provided, single submitter clinical testing

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