ClinVar Miner

Submissions for variant NM_000807.4(GABRA2):c.166C>T (p.Arg56Trp)

dbSNP: rs1308837249
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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 RCV003019638 SCV003321492 uncertain significance not provided 2023-05-30 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 2102687). This variant has not been reported in the literature in individuals affected with GABRA2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 56 of the GABRA2 protein (p.Arg56Trp).
Fulgent Genetics, Fulgent Genetics RCV005034585 SCV005665288 uncertain significance Alcohol dependence; Developmental and epileptic encephalopathy, 78 2024-05-31 criteria provided, single submitter clinical testing
Pediatric Neurology, Shengjing Hospital of China Medical University RCV004698358 SCV005199835 likely pathogenic Developmental and epileptic encephalopathy, 78 no assertion criteria provided clinical testing This variant has been reported once in ClinVar (Variant ID: 2102687) and is considered to be of uncertain significance. However, the frequency of this variant is less than 0.0005 in all normal population databases, and it is a mutation in a gene with a mis_Z score greater than or equal to 3.09 in the GnomAD database. Moreover, statistical methods predict that the variant has an impact on the gene product.

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