ClinVar Miner

Submissions for variant NM_153747.2(PIGC):c.61C>T (p.Arg21Ter)

gnomAD frequency: 0.00031  dbSNP: rs115209243
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000536686 SCV000883284 likely pathogenic Glycosylphosphatidylinositol biosynthesis defect 16 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Likely Pathogenic, for Glycosylphosphatidylinositol biosynthesis defect 16, autosomal recessive. The following ACMG Tag(s) were applied: PVS1-Moderate => PVS1 downgraded in strength to Moderate. PS3-Moderate => PS3 downgraded in strength to Moderate (https://www.ncbi.nlm.nih.gov/pubmed/27694521). PM2 => Recessive disease and allele present at low frequency in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.
New York Genome Center RCV000536686 SCV001480231 likely pathogenic Glycosylphosphatidylinositol biosynthesis defect 16 2020-07-09 criteria provided, single submitter clinical testing
DASA RCV000536686 SCV002498800 pathogenic Glycosylphosphatidylinositol biosynthesis defect 16 2022-04-10 criteria provided, single submitter clinical testing The c.61C>T;p.(Arg21)* variant creates a premature translational stop signal in the PIGC gene. It is expected to result in an absent or disrupted protein product -PVS1_moderate. Well-established in vitro or in vivo functional studies supportive of a damaging effect on the gene or gene product (PMID: 27694521) - PS3_supporting. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 471153; PMID: 27694521) - PS4. The variant is present at low allele frequencies population databases (rs115209243 – gnomAD 0.0007425%; ABraOM 0.000854 frequency - http://abraom.ib.usp.br) - PM2_supporting. The p.(Arg21*) was detected in trans with a pathogenic variant (PMID: 27694521) - PM3. The variant co-segregated with disease in multiple affected family members (PMID: 27694521) - PP1. In summary, the currently available evidence indicates that the variant is pathogenic
OMIM RCV000536686 SCV000649374 pathogenic Glycosylphosphatidylinositol biosynthesis defect 16 2017-12-21 no assertion criteria provided literature only
Eurofins Ntd Llc (ga) RCV000729218 SCV000856860 uncertain significance not provided 2017-09-11 flagged submission clinical testing

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