ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.454T>A (p.Phe152Ile) (rs121908524)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Knight Diagnostic Laboratories,Oregon Health and Sciences University RCV000005999 SCV000223918 pathogenic Primary hyperoxaluria, type I 2014-05-13 criteria provided, single submitter clinical testing
Counsyl RCV000005999 SCV000486336 pathogenic Primary hyperoxaluria, type I 2016-05-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727639 SCV000854923 pathogenic not provided 2018-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000779687 SCV000916431 pathogenic Primary hyperoxaluria 2018-07-02 criteria provided, single submitter clinical testing Variant summary: AGXT c.454T>A (p.Phe152Ile) results in a non-conservative amino acid change located in the Aminotransferase class V domain (IPR000192) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 7.6e-05 in 248758 control chromosomes (gnomAD). The variant, c.454T>A, has been reported in the literature in multiple individuals affected with Primary Hyperoxaluria Type 1 (van der Hoeven_2012, Monico_2007). These data indicate that the variant is very likely to be associated with disease. 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.
OMIM RCV000005999 SCV000026181 pathogenic Primary hyperoxaluria, type I 2013-01-25 no assertion criteria provided literature only
GeneReviews RCV000005999 SCV000172452 pathogenic Primary hyperoxaluria, type I 2014-07-17 no assertion criteria provided literature only
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000005999 SCV000239641 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro

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