ClinVar Miner

Submissions for variant NM_020944.3(GBA2):c.1A>T (p.Met1Leu)

gnomAD frequency: 0.00004  dbSNP: rs770566458
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848441 SCV002104710 likely pathogenic Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003226496 SCV003923156 uncertain significance not specified 2024-03-14 criteria provided, single submitter clinical testing Variant summary: GBA2 c.1A>T (p.Met1Leu) alters the initiation codon and is predicted to result either in absence of the protein or truncation of the encoded protein due to translation initiation at a downstream codon. The next potential in-frame start codon is located at Met9. To our knowledge, no pathogenic variants have been reported upstream of this codon. Three of three in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 5.9e-05 in 204400 control chromosomes. To our knowledge, no occurrence of c.1A>T in individuals affected with Spastic Paraplegia 46, Autosomal Recessive and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1344338). Based on the evidence outlined above, the variant was classified as uncertain significance.
Mayo Clinic Laboratories, Mayo Clinic RCV004793530 SCV005410708 uncertain significance not provided 2024-05-09 criteria provided, single submitter clinical testing PM2, PVS1_supporting

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