ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.1468-1G>A

dbSNP: rs1057516895
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409904 SCV000486396 likely pathogenic Classic homocystinuria 2016-05-23 criteria provided, single submitter clinical testing
Invitae RCV001861382 SCV002269729 likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2021-06-28 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 370957). This variant has not been reported in the literature in individuals affected with CBS-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 15 of the CBS gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CBS are known to be pathogenic (PMID: 10338090, 12124992).
Baylor Genetics RCV000409904 SCV004215548 likely pathogenic Classic homocystinuria 2023-01-18 criteria provided, single submitter clinical testing

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