ClinVar Miner

Submissions for variant NM_000157.4(GBA1):c.1549G>A (p.Gly517Ser)

dbSNP: rs121908301
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001171764 SCV001334609 pathogenic not provided 2020-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004689409 SCV005184432 uncertain significance not specified 2024-05-29 criteria provided, single submitter clinical testing Variant summary: GBA1 c.1549G>A (p.Gly517Ser) results in a non-conservative amino acid change located in the Glycosyl hydrolase family 30, beta sandwich domain (IPR033452) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 231018 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1549G>A has been reported in the literature in an individual affected with Gaucher Disease (Beutler_1993). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 8432537). ClinVar contains an entry for this variant (Variation ID: 4310). Based on the evidence outlined above, the variant was classified as uncertain significance.
OMIM RCV000004552 SCV000024726 pathogenic Gaucher disease type I 1993-06-15 no assertion criteria provided literature only

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