ClinVar Miner

Submissions for variant NM_001371727.1(GABRB2):c.577C>T (p.Arg193Cys)

gnomAD frequency: 0.00001  dbSNP: rs193920932
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252005 SCV002523053 uncertain significance See cases 2022-03-08 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV002514863 SCV003271424 uncertain significance Intellectual disability 2022-06-14 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: "Benign"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 161752). This variant has not been reported in the literature in individuals affected with GABRB2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 193 of the GABRB2 protein (p.Arg193Cys).
Science for Life laboratory, Karolinska Institutet RCV000149288 SCV000088930 unknown Malignant tumor of prostate no assertion criteria provided not provided Converted during submission to Uncertain significance.

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