ClinVar Miner

Submissions for variant NM_004431.5(EPHA2):c.2353G>A (p.Ala785Thr)

gnomAD frequency: 0.00001  dbSNP: rs766078852
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002250911 SCV002521112 likely pathogenic Cataract 6 multiple types 2022-05-22 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.002%). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.81; 3Cnet: 0.91). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with EPHA2 related disorder (PMID: 20361013). 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 family (PMID: 20361013). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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