ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.547A>G (p.Met183Val)

gnomAD frequency: 0.00005  dbSNP: rs540187537
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001906294 SCV002169995 uncertain significance L-2-hydroxyglutaric aciduria 2021-11-23 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. 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. This variant has not been reported in the literature in individuals affected with L2HGDH-related conditions. This variant is present in population databases (rs540187537, gnomAD 0.04%). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 183 of the L2HGDH protein (p.Met183Val).
Ambry Genetics RCV003339800 SCV004066075 uncertain significance Inborn genetic diseases 2023-08-08 criteria provided, single submitter clinical testing The c.547A>G (p.M183V) alteration is located in exon 5 (coding exon 5) of the L2HGDH gene. This alteration results from a A to G substitution at nucleotide position 547, causing the methionine (M) at amino acid position 183 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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