ClinVar Miner

Submissions for variant NM_000157.4(GBA):c.1250G>A (p.Trp417Ter) (rs754743440)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780283 SCV000917426 likely pathogenic Gaucher disease 2018-01-02 criteria provided, single submitter clinical testing Variant summary: The GBA c.1250G>A (p.Trp417X) variant results in a premature termination codon, predicted to cause a truncated or absent GBA protein due to nonsense mediated decay, which are commonly known mechanisms for disease. This variant was found in 1/246262 control chromosomes (gnomAD) at a frequency of 0.0000041, which does not exceed the estimated maximal expected allele frequency of a pathogenic GBA variant (0.005). A publication, Beutler_2005, indicates the variant has been observed in a Gaucher disease patient. However, the variant of interest has not, to our knowledge, been reported by other clinical diagnostic laboratories (via ClinVar), although HGMD cites the variant as "disease-causing." Taken together, this variant is classified as likely pathogenic.

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