ClinVar Miner

Submissions for variant NM_000815.5(GABRD):c.263C>T (p.Thr88Met)

gnomAD frequency: 0.00001  dbSNP: rs373508468
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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 RCV000555228 SCV000632041 uncertain significance Idiopathic generalized epilepsy 2022-09-01 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 460008). This variant has not been reported in the literature in individuals affected with GABRD-related conditions. This variant is present in population databases (rs373508468, gnomAD 0.02%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 88 of the GABRD protein (p.Thr88Met).
Ambry Genetics RCV004023822 SCV004873583 uncertain significance Inborn genetic diseases 2024-02-21 criteria provided, single submitter clinical testing The c.263C>T (p.T88M) alteration is located in exon 4 (coding exon 4) of the GABRD gene. This alteration results from a C to T substitution at nucleotide position 263, causing the threonine (T) at amino acid position 88 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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