ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.1656A>C (p.Ter552Cys)

dbSNP: rs1365095601
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674493 SCV000799839 uncertain significance Classic homocystinuria 2018-05-10 criteria provided, single submitter clinical testing
Invitae RCV002233104 SCV000828268 uncertain significance HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2018-06-12 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). 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.
Natera, Inc. RCV000674493 SCV002083752 uncertain significance Classic homocystinuria 2021-10-19 no assertion criteria provided clinical testing

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