ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.10+5G>C

dbSNP: rs587776572
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV000003648 SCV005905324 likely pathogenic Foveal hypoplasia 1 2023-11-24 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: Intron variant In silico tools predict the variant to alter splicing and produce an abnormal transcript [SpliceAI: 0.88 (>=0.2, moderate evidence for spliceogenicity)]. The variant has been observed in at least two similarly affected unrelated individuals (PMID: 12634864, 15629294). The variant has been reported to co-segregate with the disease in at least 3 similarly affected relatives/individuals in the same family or similarly affected unrelated families (PMID: 15629294). The variant has been reported to be associated with PAX6-related disorder (ClinVar ID: VCV000003479 /PMID: 12634864). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV000003648 SCV000023811 pathogenic Foveal hypoplasia 1 2004-12-01 no assertion criteria provided literature only

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