ClinVar Miner

Submissions for variant NM_020944.3(GBA2):c.1780G>C (p.Asp594His)

dbSNP: rs398123064
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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 RCV000077800 SCV000930087 likely pathogenic Hereditary spastic paraplegia 46 2019-01-25 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Spastic paraplegia 46, 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. PS3 : Well-established functional studies show a deleterious effect (PMID:26220345,30308956). PP1 : Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PMID:24252062). PP3 : Multiple lines of computational evidence support a deleterious effect on the gene or gene product.
OMIM RCV000077800 SCV000109634 pathogenic Hereditary spastic paraplegia 46 2014-01-01 no assertion criteria provided literature only

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