ClinVar Miner

Submissions for variant NM_000171.4(GLRA1):c.448C>T (p.Arg150Trp)

gnomAD frequency: 0.00005  dbSNP: rs374834686
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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 RCV001373688 SCV001570417 uncertain significance Hereditary hyperekplexia 2025-01-14 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 150 of the GLRA1 protein (p.Arg150Trp). This variant is present in population databases (rs374834686, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with GLRA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1063809). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt GLRA1 protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV002548678 SCV003580085 uncertain significance Inborn genetic diseases 2021-10-21 criteria provided, single submitter clinical testing The c.448C>T (p.R150W) alteration is located in exon 4 (coding exon 4) of the GLRA1 gene. This alteration results from a C to T substitution at nucleotide position 448, causing the arginine (R) at amino acid position 150 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GenomeConnect - Invitae Patient Insights Network RCV001373688 SCV004228775 not provided Hereditary hyperekplexia no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 06-16-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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