ClinVar Miner

Submissions for variant NC_000014.8:g.(?_29236486)_(29237955_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001386949 SCV001587374 pathogenic Rett syndrome, congenital variant 2022-07-12 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the FOXG1 gene has been identified. Loss-of-function variants in FOXG1 are known to be pathogenic (PMID: 24836831). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with clinical features of Rett syndrome (PMID: 21441262, 29611406). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic.

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