ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.922G>A (p.Val308Met)

dbSNP: rs1752559686
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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 RCV001232145 SCV001404691 uncertain significance Renal carnitine transport defect 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 308 of the SLC22A5 protein (p.Val308Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SLC22A5-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV003166419 SCV003909463 uncertain significance Inborn genetic diseases 2023-03-07 criteria provided, single submitter clinical testing The c.922G>A (p.V308M) alteration is located in exon 5 (coding exon 5) of the SLC22A5 gene. This alteration results from a G to A substitution at nucleotide position 922, causing the valine (V) at amino acid position 308 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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