ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.1177A>G (p.Thr393Ala)

gnomAD frequency: 0.00021  dbSNP: rs150157112
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504446 SCV000595484 uncertain significance not specified 2017-04-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765168 SCV000896398 uncertain significance L-2-hydroxyglutaric aciduria 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000765168 SCV000939652 uncertain significance L-2-hydroxyglutaric aciduria 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 393 of the L2HGDH protein (p.Thr393Ala). This variant is present in population databases (rs150157112, gnomAD 0.05%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with L2HGDH-related conditions. ClinVar contains an entry for this variant (Variation ID: 435690). 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 L2HGDH 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.
Athena Diagnostics RCV000676574 SCV001475938 likely benign not provided 2020-04-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002524213 SCV003569597 uncertain significance Inborn genetic diseases 2022-02-10 criteria provided, single submitter clinical testing The c.1177A>G (p.T393A) alteration is located in exon 9 (coding exon 9) of the L2HGDH gene. This alteration results from a A to G substitution at nucleotide position 1177, causing the threonine (T) at amino acid position 393 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV000676574 SCV000802361 uncertain significance not provided 2016-03-14 no assertion criteria provided clinical testing

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