Submissions for variant NM_005267.5(GJA8):c.64G>A (p.Gly22Ser)

dbSNP: rs2149015335

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Molecular Genetics of Human Eye Development, Oxford Brookes University	RCV004789561	SCV005044863	likely pathogenic	Cataract 46 juvenile-onset	2023-10-31	criteria provided, single submitter	clinical testing
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania	RCV004590361	SCV005081835	likely pathogenic	Cataract 1 multiple types	2023-01-21	criteria provided, single submitter	curation	Variant identified and curated during a GJA8 specific review of the literature in relation to pediatric or congenital cataract. ACMG-AMP criteria applied: PS4(Supporting), PM1(Supporting), PM2(Supporting), PM5(Supporting), PP1, PP3. Original variant report: PMID:31618082;33923544;36161833. The cataract phenotype reported for this variant is: lamellar. Gene review and curation guidelines are outlined in: https://doi.org/10.1080/17469899.2023.2160320
Clinical Genetics Laboratory, Skane University Hospital Lund	RCV004697126	SCV005198024	likely pathogenic	not provided	2022-05-27	criteria provided, single submitter	clinical testing
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania	RCV001775015	SCV001573175	uncertain significance	Developmental cataract	2021-05-01	no assertion criteria provided	research