ClinVar Miner

Submissions for variant NM_000807.4(GABRA2):c.29T>C (p.Met10Thr)

gnomAD frequency: 0.00014  dbSNP: rs200327122
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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 RCV001948038 SCV002188173 uncertain significance not provided 2023-04-25 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 10 of the GABRA2 protein (p.Met10Thr). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1417022). This variant has not been reported in the literature in individuals affected with GABRA2-related conditions. This variant is present in population databases (rs200327122, gnomAD 0.04%).
Ambry Genetics RCV002556438 SCV003536919 uncertain significance Inborn genetic diseases 2021-06-03 criteria provided, single submitter clinical testing The c.29T>C (p.M10T) alteration is located in exon 1 (coding exon 1) of the GABRA2 gene. This alteration results from a T to C substitution at nucleotide position 29, causing the methionine (M) at amino acid position 10 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003134245 SCV003816261 uncertain significance Developmental and epileptic encephalopathy, 78 2021-12-28 criteria provided, single submitter clinical testing

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