ClinVar Miner

Submissions for variant NM_001127178.3(PIGG):c.2207C>T (p.Ala736Val)

gnomAD frequency: 0.00001  dbSNP: rs745563663
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000526887 SCV000656882 uncertain significance Intellectual disability, autosomal recessive 53 2022-07-07 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 736 of the PIGG protein (p.Ala736Val). This variant is present in population databases (rs745563663, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with PIGG-related conditions. ClinVar contains an entry for this variant (Variation ID: 476335). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Baylor Genetics RCV000526887 SCV001528882 uncertain significance Intellectual disability, autosomal recessive 53 2018-06-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Breakthrough Genomics, Breakthrough Genomics RCV004691909 SCV005189960 uncertain significance not provided criteria provided, single submitter not provided

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