ClinVar Miner

Submissions for variant NM_020686.6(ABAT):c.538C>T (p.Arg180Trp)

gnomAD frequency: 0.00001  dbSNP: rs746589996
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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 RCV000805733 SCV000945701 uncertain significance Gamma-aminobutyric acid transaminase deficiency 2022-07-05 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 650563). This variant has not been reported in the literature in individuals affected with ABAT-related conditions. This variant is present in population databases (rs746589996, gnomAD 0.002%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 180 of the ABAT protein (p.Arg180Trp).
Ambry Genetics RCV002534817 SCV003561788 uncertain significance Inborn genetic diseases 2021-05-03 criteria provided, single submitter clinical testing The c.538C>T (p.R180W) alteration is located in exon 8 (coding exon 7) of the ABAT gene. This alteration results from a C to T substitution at nucleotide position 538, causing the arginine (R) at amino acid position 180 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Center for Molecular Medicine, Children’s Hospital of Fudan University RCV000805733 SCV002073919 likely pathogenic Gamma-aminobutyric acid transaminase deficiency 2022-02-08 no assertion criteria provided clinical testing

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