ClinVar Miner

Submissions for variant NC_000002.12:g.(?_50620002)_(51032054_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001033397 SCV001196704 pathogenic Pitt-Hopkins-like syndrome 2 2022-06-14 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 1-9 of the NRXN1 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NRXN1 are known to be pathogenic (PMID: 19896112, 21964664, 23495017, 23533028, 25149956, 30031152). A similar copy number variant has been observed in individual(s) with developmental delay and hypotonia (PMID: 23533028). For these reasons, this variant has been classified as Pathogenic.

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