ClinVar Miner

Submissions for variant NM_000824.5(GLRB):c.782C>T (p.Thr261Ile)

dbSNP: rs2126583509
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001880908 SCV002145990 uncertain significance Hyperekplexia 2 2021-10-14 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 261 of the GLRB protein (p.Thr261Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with GLRB-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GLRB protein function. 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.

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