ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.689del (p.Leu230fs) (rs775351239)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169175 SCV000220407 likely pathogenic Classic homocystinuria 2014-06-11 criteria provided, single submitter literature only
GeneDx RCV000198642 SCV000249735 pathogenic not provided 2021-04-23 criteria provided, single submitter clinical testing Reported in ClinVar (ClinVar Variant ID# 188829; Landrum et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 21520339, 20871414, 31589614)
Invitae RCV000169175 SCV000935887 pathogenic Classic homocystinuria 2020-08-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu230Argfs*39) in the CBS gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs775351239, ExAC 0.001%). This variant has been observed as homozygous in an individual affected with homocystinuria (PMID: 21520339). ClinVar contains an entry for this variant (Variation ID: 188829). Loss-of-function variants in CBS are known to be pathogenic (PMID: 10338090, 12124992). For these reasons, this variant has been classified as Pathogenic.

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