ClinVar Miner

Submissions for variant NM_005267.5(GJA8):c.116C>A (p.Thr39Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV003152913 SCV003841446 uncertain significance Cataract 1 multiple types 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.92; 3Cnet: 0.60). A different missense change at the same codon (p.Thr39Arg) has been reported to be associated with GJA8 related disorder (PMID: 21686328). However the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.
CeGaT Center for Human Genetics Tuebingen RCV003456574 SCV004183581 likely pathogenic not provided 2023-11-01 criteria provided, single submitter clinical testing GJA8: PM1, PM2, PM5:Supporting, PP3

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