ClinVar Miner

Submissions for variant NM_194454.3(KRIT1):c.1688A>G (p.Tyr563Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003253673 SCV003966026 likely benign Inborn genetic diseases 2023-05-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Clinical Genomics Laboratory, Washington University in St. Louis RCV003456314 SCV004177061 uncertain significance Cerebral cavernous malformation 2023-09-28 criteria provided, single submitter clinical testing The KRIT1 c.1688A>G (p.Tyr563Cys) variant was identified at near heterozygous allelic fraction and to our knowledge, it has not been reported in the medical literature. This variant has been reported in the ClinVar database as likely benign by a single submitter (ClinVar ID: 2533693). KRIT1 c.1688A>G (p.Tyr563Cys) is only observed on 2/152202 alleles in the general population (gnomAD v.3.1.2), indicating it is not a common variant. Computational predictors suggest that KRIT1 c.1688A>G (p.Tyr563Cys) is damaging, evidence that correlates with impact to KRIT1 function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), KRIT1 c.1688A>G (p.Tyr563Cys) is classified as being of uncertain significance at this time.

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