ClinVar Miner

Submissions for variant NM_020944.3(GBA2):c.2618G>A (p.Arg873His)

dbSNP: rs398123015
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde RCV000515888 SCV000574446 pathogenic Hereditary spastic paraplegia 2017-03-07 criteria provided, single submitter research
SIB Swiss Institute of Bioinformatics RCV000034374 SCV000930082 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-Moderate : Functional evidence PS3 downgraded in strength to Moderate (PMID:26220345). PP1 : Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PMID:23332917). PP3 : Multiple lines of computational evidence support a deleterious effect on the gene or gene product.
OMIM RCV000034374 SCV000058358 pathogenic Hereditary spastic paraplegia 46 2013-02-07 no assertion criteria provided literature only

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