ClinVar Miner

Submissions for variant NM_002074.5(GNB1):c.487G>A (p.Asp163Asn)

dbSNP: rs2100546220
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706856 SCV001934396 likely pathogenic Intellectual disability, autosomal dominant 42 2021-01-19 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).
Labcorp Genetics (formerly Invitae), Labcorp RCV002300570 SCV002589231 uncertain significance not provided 2022-10-03 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. 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 expected to disrupt GNB1 protein function. ClinVar contains an entry for this variant (Variation ID: 1285499). This variant has not been reported in the literature in individuals affected with GNB1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 163 of the GNB1 protein (p.Asp163Asn).

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