ClinVar Miner

Submissions for variant NM_007035.4(KERA):c.623C>G (p.Pro208Arg)

dbSNP: rs778354357
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002251143 SCV002521589 uncertain significance Cornea plana 2 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.61; 3Cnet: 0.19). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with KERA related disorder (PMID: 28799822). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as uncertain significanceaccording to the recommendation of ACMG/AMP guideline.

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