ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.748C>T (p.Gln250Ter) (rs398123221)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078297 SCV000110137 pathogenic not provided 2018-07-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780290 SCV000917443 pathogenic Fabry disease 2018-05-22 criteria provided, single submitter clinical testing Variant summary: GLA c.748C>T (p.Gln250X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (eg. c.830G>A (p.Trp277X), c.901C>T (p.Arg301X), and c.996_999delACAG (p.Gln333fsX14)). The variant was absent in 178749 control chromosomes (gnomAD). The variant, c.748C>T, has been reported in the literature in individuals affected with Fabry Disease (Ashley_2001, Lopez_2017). The patient identified in the Lopez_2017 publication had alpha-galactosidase level of 0.001. A ClinVar submission from a clinical diagnostic laboratory (evaluation after 2014) cites the variant as "pathogenic." Based on the evidence outlined above, the variant was classified as pathogenic.

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