ClinVar Miner

Submissions for variant NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs)

dbSNP: rs1057517753
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414484 SCV000490587 pathogenic not provided 2023-07-18 criteria provided, single submitter clinical testing 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; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23595507, 27649701, 22699465, 18300272, 20884211, 18383594, 33651268)
PreventionGenetics, part of Exact Sciences RCV000414484 SCV000852966 pathogenic not provided 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000816950 SCV000957480 pathogenic Cerebral cavernous malformation 2023-07-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln401Thrfs*10) 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 premature translational stop signal has been observed in individual(s) with cerebral cavernous malformations (PMID: 2359550, 18300272, 20884211, 22699465, 27649701; Invitae). This variant is also known as c.1197_1200delCAAA. ClinVar contains an entry for this variant (Variation ID: 372398). For these reasons, this variant has been classified as Pathogenic.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000816950 SCV001366349 uncertain significance Cerebral cavernous malformation 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PP4,PP5.
Genetics and Molecular Pathology, SA Pathology RCV003447526 SCV004175585 pathogenic Hereditary cavernous hemangioma of brain 2022-06-20 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, University of Torino RCV000816950 SCV001976510 pathogenic Cerebral cavernous malformation 2021-10-06 no assertion criteria provided research

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