ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.115T>G (p.Ser39Ala)

gnomAD frequency: 0.00016  dbSNP: rs544332057
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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 RCV001866448 SCV002123584 uncertain significance Renal carnitine transport defect 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 39 of the SLC22A5 protein (p.Ser39Ala). This variant is present in population databases (rs544332057, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SLC22A5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1354484). 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 not expected to disrupt SLC22A5 protein function. 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 RCV001866448 SCV002576597 likely benign Renal carnitine transport defect 2022-10-03 criteria provided, single submitter research
Revvity Omics, Revvity RCV001866448 SCV003823355 uncertain significance Renal carnitine transport defect 2019-11-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV003164065 SCV003879835 uncertain significance Inborn genetic diseases 2023-03-07 criteria provided, single submitter clinical testing The c.115T>G (p.S39A) alteration is located in exon 1 (coding exon 1) of the SLC22A5 gene. This alteration results from a T to G substitution at nucleotide position 115, causing the serine (S) at amino acid position 39 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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