ClinVar Miner

Submissions for variant NM_194454.3(KRIT1):c.1400C>A (p.Ser467Ter)

dbSNP: rs1554513911
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578785 SCV000681283 pathogenic not provided 2023-04-14 criteria provided, single submitter clinical testing Nonsense 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; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000798671 SCV000938297 pathogenic Cerebral cavernous malformation 2024-01-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser467*) in the KRIT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KRIT1 are known to be pathogenic (PMID: 10508515, 11222804, 12404106, 24689081). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KRIT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 489287). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Athena Diagnostics RCV000578785 SCV005620835 likely pathogenic not provided 2023-10-11 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations. (http://gnomad.broadinstitute.org)

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