ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.969G>A (p.Trp323Ter) (rs863223432)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197013 SCV000249697 pathogenic not provided 2015-06-11 criteria provided, single submitter clinical testing The W323X nonsense mutation in the CBS gene has been reported previously in association with homocystinuria due to cystathionine beta synthase (CBS) deficiency (Zaidi et al., 2012). W323X appears to be a common mutation in Saudi Arabian patients having been found in 10 of 13 Saudi Arabian families with homocystinuria due to CBS deficiency (Zaidi et al., 2012). Furthermore, this mutation is located in the catalytic domain of the CBS protein (Zaidi et al., 2012) and is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant was found in CBS
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000197013 SCV000330914 pathogenic not provided 2015-11-20 criteria provided, single submitter clinical testing
Counsyl RCV000363392 SCV000789412 pathogenic Homocystinuria due to CBS deficiency 2017-02-07 criteria provided, single submitter clinical testing
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000363392 SCV000891630 pathogenic Homocystinuria due to CBS deficiency 2017-12-30 no assertion criteria provided curation

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