ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.10744G>C (p.Ala3582Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224760 SCV003920641 uncertain significance Brittle cornea syndrome 1 2023-01-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature. It is present in gnomAD (Highest reported MAF: 0.004% [1/22646]; https://gnomad.broadinstitute.org/variant/16-88504622-G-C?dataset=gnomad_r2_1). Evolutionary conservation and computational prediction tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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