ClinVar Miner

Submissions for variant NM_133261.3(GIPC3):c.908C>T (p.Ala303Val)

gnomAD frequency: 0.00001  dbSNP: rs772816799
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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 RCV001972199 SCV002209447 uncertain significance not provided 2021-07-12 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with GIPC3-related conditions. This variant is present in population databases (rs772816799, ExAC 0.04%). This sequence change replaces alanine with valine at codon 303 of the GIPC3 protein (p.Ala303Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine.
GeneDx RCV001972199 SCV002559263 uncertain significance not provided 2022-07-26 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

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