ClinVar Miner

Submissions for variant NM_003801.4(GPAA1):c.869T>C (p.Leu290Pro) (rs1554764058)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000522028 SCV000622107 pathogenic GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 2017-12-18 no assertion criteria provided literature only
SIB Swiss Institute of Bioinformatics RCV000522028 SCV000883157 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: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP1 => Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease ( PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM5 => Missense substitution changing Leu to Pro at a position adiacent to a residue where a likely pathogenic Leu to Pro change has been observed before.

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