ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.202C>T (p.Pro68Ser)

dbSNP: rs1045644394
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481536 SCV000565568 likely pathogenic not provided 2015-02-28 criteria provided, single submitter clinical testing A novel P68S variant that is likely pathogenic was identified in the SLC22A5 gene. It has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The P68S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded.
Labcorp Genetics (formerly Invitae), Labcorp RCV001067038 SCV001232067 uncertain significance Renal carnitine transport defect 2022-03-19 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 68 of the SLC22A5 protein (p.Pro68Ser). This variant is not present in population databases (gnomAD no frequency). 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: 418492). 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. 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.
Genome-Nilou Lab RCV001067038 SCV002055738 uncertain significance Renal carnitine transport defect 2021-07-15 criteria provided, single submitter clinical testing

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