ClinVar Miner

Submissions for variant NM_194454.3(KRIT1):c.802C>T (p.Gln268Ter)

dbSNP: rs886039659
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255382 SCV000322593 pathogenic not provided 2016-07-01 criteria provided, single submitter clinical testing The Q268X nonsense pathogenic variant in the KRIT1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
Revvity Omics, Revvity RCV003144183 SCV003832236 likely pathogenic Cerebral cavernous malformation 2022-08-23 criteria provided, single submitter clinical testing

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