ClinVar Miner

Submissions for variant NM_133261.3(GIPC3):c.440G>A (p.Arg147Gln)

gnomAD frequency: 0.00031  dbSNP: rs141293401
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150722 SCV000198141 likely benign not specified 2016-06-02 criteria provided, single submitter clinical testing p.Arg147Gln in exon 03 GIPC3: This variant is not expected to have clinical sign ificance because several lower species (zebrafish, stickleback, and medaka) carr y a glutamine (Gln) at this position. It has also been identified in 24/65122 ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs141293401).
Labcorp Genetics (formerly Invitae), Labcorp RCV001850049 SCV002147649 uncertain significance not provided 2025-01-02 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 147 of the GIPC3 protein (p.Arg147Gln). This variant is present in population databases (rs141293401, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with GIPC3-related conditions. ClinVar contains an entry for this variant (Variation ID: 163506). 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 GIPC3 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 RCV002516026 SCV003664980 uncertain significance Inborn genetic diseases 2021-10-18 criteria provided, single submitter clinical testing The c.440G>A (p.R147Q) alteration is located in exon 3 (coding exon 3) of the GIPC3 gene. This alteration results from a G to A substitution at nucleotide position 440, causing the arginine (R) at amino acid position 147 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV001850049 SCV005331914 uncertain significance not provided 2024-03-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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