ClinVar Miner

Submissions for variant NM_001127178.3(PIGG):c.910C>T (p.Arg304Ter)

gnomAD frequency: 0.00001  dbSNP: rs752545577
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995836 SCV001150206 pathogenic Intellectual disability, autosomal recessive 53 2018-12-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000995836 SCV001211875 pathogenic Intellectual disability, autosomal recessive 53 2023-08-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 807654). This variant has not been reported in the literature in individuals affected with PIGG-related conditions. This variant is present in population databases (rs752545577, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Arg304*) in the PIGG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PIGG are known to be pathogenic (PMID: 26996948, 28581210, 28771251).
Baylor Genetics RCV000995836 SCV001529540 pathogenic Intellectual disability, autosomal recessive 53 2018-11-08 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002549919 SCV003624984 pathogenic Inborn genetic diseases 2022-06-09 criteria provided, single submitter clinical testing The c.910C>T (p.R304*) alteration, located in exon 6 (coding exon 6) of the PIGG gene, consists of a C to T substitution at nucleotide position 910. This changes the amino acid from an arginine (R) to a stop codon at amino acid position 304. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from gnomAD, the T allele has an overall frequency of 0.001% (2/251464) total alleles studied. The highest observed frequency was 0.002% (2/113750) of European (non-Finnish) alleles. Based on the available evidence, this alteration is classified as pathogenic.
GeneDx RCV003232180 SCV003929719 pathogenic not provided 2025-01-14 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Published functional study was inconclusive regarding the impact of p.R304* on enzymatic activity (PMID: 34113002); This variant is associated with the following publications: (PMID: 28771251, 26996948, 28581210, 34113002)

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