ClinVar Miner

Submissions for variant NM_020944.3(GBA2):c.700C>T (p.Arg234Ter)

gnomAD frequency: 0.00001  dbSNP: rs398123013
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000034370 SCV000930085 pathogenic Hereditary spastic paraplegia 46 2019-01-25 criteria provided, single submitter curation This variant is interpreted as a 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 : PS3 downgraded in strength to Moderate (PMID:26220345). PVS1 : Predicted nullvariant in a gene where LOF is a known mechanism of disease. PP1 : Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PMID:23332917).
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268639 SCV001447712 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005055533 SCV005720678 pathogenic Spastic paraplegia 2024-04-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg234*) in the GBA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GBA2 are known to be pathogenic (PMID: 23332916, 23332917). This variant is present in population databases (rs398123013, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with hereditary spastic paraplegia (PMID: 23332916). ClinVar contains an entry for this variant (Variation ID: 41486). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000034370 SCV000058354 pathogenic Hereditary spastic paraplegia 46 2013-02-07 no assertion criteria provided literature only
Solve-RD Consortium RCV000034370 SCV005091426 likely pathogenic Hereditary spastic paraplegia 46 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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