ClinVar Miner

Submissions for variant NM_153747.2(PIGC):c.635T>C (p.Leu212Pro)

gnomAD frequency: 0.00001  dbSNP: rs1553259602
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000551426 SCV000883160 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: PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PS3-Moderate => PS3 downgraded in strength to Moderate (https://www.ncbi.nlm.nih.gov/pubmed/27694521). PM3-Supporting => PM3 downgraded in strength to Supporting.
OMIM RCV000551426 SCV000649375 pathogenic Glycosylphosphatidylinositol biosynthesis defect 16 2017-12-21 no assertion criteria provided literature only

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