ClinVar Miner

Submissions for variant NM_000824.5(GLRB):c.307G>A (p.Val103Ile)

gnomAD frequency: 0.00001  dbSNP: rs1303450282
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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 RCV001066515 SCV001231528 uncertain significance Hyperekplexia 2 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 103 of the GLRB protein (p.Val103Ile). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with GLRB-related conditions. ClinVar contains an entry for this variant (Variation ID: 860241). 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.
PreventionGenetics, part of Exact Sciences RCV003413885 SCV004114125 uncertain significance GLRB-related disorder 2023-09-14 criteria provided, single submitter clinical testing The GLRB c.307G>A variant is predicted to result in the amino acid substitution p.Val103Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00078% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-158057630-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004629440 SCV005123026 uncertain significance Inborn genetic diseases 2024-03-15 criteria provided, single submitter clinical testing The c.307G>A (p.V103I) alteration is located in exon 5 (coding exon 4) of the GLRB gene. This alteration results from a G to A substitution at nucleotide position 307, causing the valine (V) at amino acid position 103 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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