ClinVar Miner

Submissions for variant NM_194454.3(KRIT1):c.280A>G (p.Met94Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV004560385 SCV005047081 uncertain significance Cerebral cavernous malformation 2024-05-08 criteria provided, single submitter clinical testing The KRIT1 c.280A>G (p.Met94Val) variant was identified at an allelic fraction of 35.7%. This variant, to our knowledge, has not been reported in the medical literature and is absent from the general population (gnomAD v.4.1.0), indicating it is not a common variant. Computational predictors suggest that the variant does not impact KRIT1 function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S e tal., PMID: 25741868), is classified as being of uncertain significance at this time.

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