ClinVar Miner

Submissions for variant NM_001127178.3(PIGG):c.712G>A (p.Glu238Lys)

gnomAD frequency: 0.00016  dbSNP: rs781997463
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000697606 SCV000826226 uncertain significance Intellectual disability, autosomal recessive 53 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 238 of the PIGG protein (p.Glu238Lys). This variant is present in population databases (rs781997463, gnomAD 0.04%). 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: 575404). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PIGG 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 RCV000697606 SCV001519682 uncertain significance Intellectual disability, autosomal recessive 53 2019-11-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002533494 SCV003747259 uncertain significance Inborn genetic diseases 2022-08-01 criteria provided, single submitter clinical testing The c.712G>A (p.E238K) alteration is located in exon 4 (coding exon 4) of the PIGG gene. This alteration results from a G to A substitution at nucleotide position 712, causing the glutamic acid (E) at amino acid position 238 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004588132 SCV005078519 uncertain significance not provided 2024-04-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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