ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.1656A>C (p.Ter552Cys) (rs1365095601)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674493 SCV000799839 uncertain significance Homocystinuria due to CBS deficiency 2018-05-10 criteria provided, single submitter clinical testing
Invitae RCV000674493 SCV000828268 uncertain significance Homocystinuria due to CBS deficiency 2018-06-18 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the CBS mRNA. It is expected to extend the length of the CBS protein by 31 additional amino acid residues. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CBS-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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