ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.637G>A (p.Ala213Thr)

gnomAD frequency: 0.00001  dbSNP: rs749602236
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001582430 SCV001821576 uncertain significance Renal carnitine transport defect 2021-07-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001582430 SCV002785722 uncertain significance Renal carnitine transport defect 2021-12-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001582430 SCV003470035 uncertain significance Renal carnitine transport defect 2022-05-10 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 213 of the SLC22A5 protein (p.Ala213Thr). This variant is present in population databases (rs749602236, gnomAD 0.004%). 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: 1217323). 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.
Ambry Genetics RCV003246992 SCV003978183 uncertain significance Inborn genetic diseases 2023-05-15 criteria provided, single submitter clinical testing The c.637G>A (p.A213T) alteration is located in exon 3 (coding exon 3) of the SLC22A5 gene. This alteration results from a G to A substitution at nucleotide position 637, causing the alanine (A) at amino acid position 213 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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