ClinVar Miner

Submissions for variant NC_000010.10:g.(?_102566167)_(102566382_?)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 RCV001385959 SCV001585997 pathogenic Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2020-05-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PAX2 are known to be pathogenic (PMID: 11461952, 24676634). This variant has not been reported in the literature in individuals with PAX2-related conditions. This variant is an out-of-frame deletion of the genomic region encompassing exon(s) 6 of the PAX2 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product.

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