ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.538C>G (p.Gln180Glu)

dbSNP: rs1437174685
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000698844 SCV000827533 pathogenic Renal carnitine transport defect 2024-02-02 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 180 of the SLC22A5 protein (p.Gln180Glu). This variant is present in population databases (no rsID available, gnomAD 0.006%). This missense change has been observed in individual(s) with primary carnitine deficiency (PMID: 32371215, 33181153). ClinVar contains an entry for this variant (Variation ID: 576364). 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%. For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV000698844 SCV002060014 uncertain significance Renal carnitine transport defect 2021-11-11 criteria provided, single submitter clinical testing NM_003060.3(SLC22A5):c.538C>G(Q180E) is a missense variant classified as a variant of uncertain significance in the context of primary carnitine deficiency. Q180E has been observed in cases with relevant disease (PMID: 32371215, 33181153). Functional assessments of this variant are not available in the literature. Q180E has been observed in population frequency databases (gnomAD: EAS 0.006%). In summary, there is insufficient evidence to classify NM_003060.3(SLC22A5):c.538C>G(Q180E) as pathogenic or benign. Please note: this variant was assessed in the context of healthy population screening.
Giacomini Lab, University of California, San Francisco RCV000698844 SCV002576646 uncertain significance Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research
Baylor Genetics RCV000698844 SCV004201290 likely pathogenic Renal carnitine transport defect 2023-12-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000698844 SCV005669202 likely pathogenic Renal carnitine transport defect 2024-06-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274334 SCV001458330 uncertain significance Decreased circulating carnitine concentration 2020-03-17 no assertion criteria provided clinical testing

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