ClinVar Miner

Submissions for variant NM_000157.4(GBA1):c.44T>C (p.Leu15Ser)

gnomAD frequency: 0.00003  dbSNP: rs1141802
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004091313 SCV003554083 likely benign not specified 2021-07-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV004560069 SCV005046846 pathogenic Gaucher disease type I 2024-04-30 criteria provided, single submitter clinical testing A heterozygous variant in exon 2 of the GBA was detected. In summary, the variant meets our criteria to be classified as pathogenic.

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