ClinVar Miner

Submissions for variant NC_000021.9:g.(?_43053340)_(43056907_?)del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000648132 SCV000769946 uncertain significance Classic homocystinuria 2017-08-25 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 16-17 of the CBS gene. The 5' boundary is likely confined to intron 16. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has been observed in an individual with elevetaed methionine and homocysteine, findings that are highly specific for homocystinuria (Invitae). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001855339 SCV002283441 uncertain significance HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2017-08-17 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 16-17 of the CBS gene. The 5' boundary is likely confined to intron 16. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has been observed in an individual with elevetaed methionine and homocysteine, findings that are highly specific for homocystinuria (Invitae). 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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