ClinVar Miner

Submissions for variant NM_004963.4(GUCY2C):c.1279C>T (p.Arg427Trp)

gnomAD frequency: 0.00036  dbSNP: rs150939711
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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 RCV002016794 SCV002301373 uncertain significance not provided 2025-01-07 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 427 of the GUCY2C protein (p.Arg427Trp). This variant is present in population databases (rs150939711, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with GUCY2C-related conditions. ClinVar contains an entry for this variant (Variation ID: 1511545). 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 GUCY2C 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.
CeGaT Center for Human Genetics Tuebingen RCV002016794 SCV004134493 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing GUCY2C: BP4

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