ClinVar Miner

Submissions for variant NC_000006.11:g.(?_42672083)_(42672369_?)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 RCV001942096 SCV002230011 pathogenic PRPH2-related disorder 2023-11-16 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 2 of the PRPH2 gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to disrupt the C-terminus of the protein. This variant has not been reported in the literature in individuals affected with PRPH2-related conditions. This variant disrupts a region of the PRPH2 protein in which other variant(s) (p.Leu307Argfs*17) have been determined to be pathogenic (PMID: 8019570, 22183351, 24265693). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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