ClinVar Miner

Submissions for variant NM_001127178.3(PIGG):c.589A>G (p.Arg197Gly)

gnomAD frequency: 0.00006  dbSNP: rs151220901
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328539 SCV001519681 uncertain significance Intellectual disability, autosomal recessive 53 2019-09-25 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 RCV001328539 SCV001544627 uncertain significance Intellectual disability, autosomal recessive 53 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 197 of the PIGG protein (p.Arg197Gly). This variant is present in population databases (rs151220901, gnomAD 0.01%). 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: 1027681). 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.
Ambry Genetics RCV004035266 SCV005004511 uncertain significance Inborn genetic diseases 2023-11-27 criteria provided, single submitter clinical testing The c.589A>G (p.R197G) alteration is located in exon 4 (coding exon 4) of the PIGG gene. This alteration results from a A to G substitution at nucleotide position 589, causing the arginine (R) at amino acid position 197 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GenomeConnect - Brain Gene Registry RCV001328539 SCV003931178 not provided Intellectual disability, autosomal recessive 53 no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 07-27-2021 by Invitae. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

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