ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.1210_1212del (p.Glu404del)

dbSNP: rs1555872822
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673393 SCV000798591 uncertain significance Classic homocystinuria 2018-03-14 criteria provided, single submitter clinical testing
Invitae RCV001861821 SCV002201818 uncertain significance HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2021-08-31 criteria provided, single submitter clinical testing This variant, c.1210_1212del, results in the deletion of 1 amino acid(s) of the CBS protein (p.Glu404del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CBS-related conditions. ClinVar contains an entry for this variant (Variation ID: 557273). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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