ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.677T>A (p.Val226Asp)

gnomAD frequency: 0.00001  dbSNP: rs373199019
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001989776 SCV002230444 uncertain significance Renal carnitine transport defect 2022-04-26 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 226 of the SLC22A5 protein (p.Val226Asp). This variant is present in population databases (rs373199019, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with SLC22A5-related conditions. 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.
GeneDx RCV003229073 SCV003926157 uncertain significance not provided 2023-05-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Breakthrough Genomics, Breakthrough Genomics RCV003229073 SCV005188590 uncertain significance not provided criteria provided, single submitter not provided

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