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 For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in KRIT1 are known to be pathogenic (PMID: 10508515, 11222804, 12404106, 24689081). 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). This variant is not present in population databases (ExAC no frequency). 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.
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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