ClinVar Miner

Submissions for variant NM_003801.4(GPAA1):c.872T>C (p.Leu291Pro) (rs1010907740)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000521887 SCV000622101 pathogenic GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 2017-12-15 no assertion criteria provided literature only
SIB Swiss Institute of Bioinformatics RCV000521887 SCV000883156 likely pathogenic GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Likely Pathogenic, for Glycosylphosphatidylinositol biosynthesis defect 15, autosomal recessive. The following ACMG Tag(s) were applied: PP1 => Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (https://www.ncbi.nlm.nih.gov/pubmed/29100095). PS3 => Well-established functional studies show a deleterious effect (https://www.ncbi.nlm.nih.gov/pubmed/29100095). PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM3-Supporting => PM3 downgraded in strength to Supporting (https://www.ncbi.nlm.nih.gov/pubmed/29100095).

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