ClinVar Miner

Submissions for variant NM_001127178.3(PIGG):c.2874G>C (p.Glu958Asp)

dbSNP: rs760527742
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001231513 SCV001404039 uncertain significance Intellectual disability, autosomal recessive 53 2019-09-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with PIGG-related conditions. This sequence change replaces glutamic acid with aspartic acid at codon 958 of the PIGG protein (p.Glu958Asp). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is not present in population databases (ExAC no frequency). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; 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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