ClinVar Miner

Submissions for variant NC_000006.11:g.(?_42689492)_(42690072_?)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 RCV001383356 SCV001582455 pathogenic PRPH2-related disorder 2020-08-21 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 1 of the PRPH2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the PRPH2 gene. This is expected to result in an absent or disrupted protein product. A similar copy number variation has been observed in individual(s) with cone and cone-rod dystrophy (PMID: 26103963). Loss-of-function variants in PRPH2 are known to be pathogenic (PMID: 8111389, 8485576, 8675410, 16916875, 17504850, 25675413, 26061163, 27365499, 29555955). For these reasons, this variant has been classified as Pathogenic.

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