ClinVar Miner

Submissions for variant NC_000010.10:g.(?_102510431)_(102510668_?)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 RCV001379684 SCV001577524 likely pathogenic Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2020-09-17 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exon 3 of the PAX2 gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with PAX2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant disrupts the p.Gly84Ser amino acid residue in PAX2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 22213154). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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