ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.971A>G (p.Lys324Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002721889 SCV003001264 uncertain significance Renal carnitine transport defect 2022-05-19 criteria provided, single submitter clinical testing 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. 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. This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 324 of the SLC22A5 protein (p.Lys324Arg). 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.
Ambry Genetics RCV002745727 SCV003616903 uncertain significance Inborn genetic diseases 2022-05-16 criteria provided, single submitter clinical testing The c.971A>G (p.K324R) alteration is located in exon 6 (coding exon 6) of the SLC22A5 gene. This alteration results from a A to G substitution at nucleotide position 971, causing the lysine (K) at amino acid position 324 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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