ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.28del (p.Val10fs) (rs779250698)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723446 SCV000331042 pathogenic not provided 2016-07-07 criteria provided, single submitter clinical testing
Counsyl RCV000279971 SCV000486660 likely pathogenic Classic homocystinuria 2016-07-15 criteria provided, single submitter clinical testing
Invitae RCV000279971 SCV001375320 pathogenic Classic homocystinuria 2019-06-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val10Trpfs*72) in the CBS gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs779250698, ExAC 0.002%). This variant has been observed in combination with another CBS variant in individuals affected with homocystinuria (PMID: 11359213, 29352562). This variant is also known as c.28_29delG in the literature. ClinVar contains an entry for this variant (Variation ID: 281010). Loss-of-function variants in CBS are known to be pathogenic (PMID: 10338090, 12124992). For these reasons, this variant has been classified as Pathogenic.

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