ClinVar Miner

Submissions for variant NM_020686.6(ABAT):c.1129C>T (p.Arg377Trp)

gnomAD frequency: 0.00001  dbSNP: rs1330995774
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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 RCV000505292 SCV001219218 uncertain significance Gamma-aminobutyric acid transaminase deficiency 2020-02-10 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed as homozygous in an individual affected with early infantile-onset encephalopathy (PMID: 28411234). ClinVar contains an entry for this variant (Variation ID: 438389). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with tryptophan at codon 377 of the ABAT protein (p.Arg377Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan.
OMIM RCV000505292 SCV000599473 pathogenic Gamma-aminobutyric acid transaminase deficiency 2023-10-25 no assertion criteria provided literature only

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