Submissions for variant NM_194454.3(KRIT1):c.813G>A (p.Trp271Ter)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
MGZ Medical Genetics Center	RCV002289378	SCV002580854	likely pathogenic	Cerebral cavernous malformation	2022-07-29	criteria provided, single submitter	clinical testing
GeneDx	RCV004591869	SCV005081241	pathogenic	not provided	2023-12-16	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Also known as c.192 G>A p.(W64X); This variant is associated with the following publications: (PMID: 25525159, 11222804)
PreventionGenetics, part of Exact Sciences	RCV004731259	SCV005339691	pathogenic	KRIT1-related disorder	2024-07-04	no assertion criteria provided	clinical testing	The KRIT1 c.813G>A variant is predicted to result in premature protein termination (p.Trp271*). This variant was reported in an individual with cerebral cavernous malformations (variant referred to as 92G>A W64X in Davenport et al 2001. PubMed ID: 11222804). This variant has not been reported in a large population database, indicating this variant is rare. Nonsense variants in KRIT1 are expected to be pathogenic. This variant is interpreted as pathogenic.