ClinVar Miner

Submissions for variant NM_153747.2(PIGC):c.308T>C (p.Ile103Thr)

gnomAD frequency: 0.00031  dbSNP: rs61747503
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330949 SCV001522821 uncertain significance Glycosylphosphatidylinositol biosynthesis defect 16 2019-02-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546425 SCV003261919 uncertain significance not provided 2022-05-30 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 103 of the PIGC protein (p.Ile103Thr). This variant is present in population databases (rs61747503, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with PIGC-related conditions. ClinVar contains an entry for this variant (Variation ID: 1029615). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.

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