ClinVar Miner

Submissions for variant NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter)

dbSNP: rs1554527169
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626868 SCV000747571 pathogenic Cavernous hemangioma 2017-01-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000721907 SCV000853059 pathogenic not provided 2016-03-21 criteria provided, single submitter clinical testing
Genomic Medicine Lab, University of California San Francisco RCV001007911 SCV001167620 pathogenic Cerebral cavernous malformation 2018-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001007911 SCV001229905 pathogenic Cerebral cavernous malformation 2021-03-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser301*) in the KRIT1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals with cerebral cavernous malformations (PMID: 10545614, 23595507, 24466005). This variant is also known as 281C>G, S94X in the literature. ClinVar contains an entry for this variant (Variation ID: 523476). Loss-of-function variants in KRIT1 are known to be pathogenic (PMID: 10508515, 11222804, 12404106, 24689081). For these reasons, this variant has been classified as Pathogenic.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001007911 SCV001367653 pathogenic Cerebral cavernous malformation 2020-03-15 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PS4_MOD,PM2,PP4.

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