ClinVar Miner

Submissions for variant NM_001386094.1(AGBL1):c.3044G>C (p.Cys1015Ser)

gnomAD frequency: 0.00124  dbSNP: rs181958589
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000074409 SCV002517529 likely benign Corneal dystrophy, Fuchs endothelial, 8 2024-10-08 criteria provided, single submitter clinical testing The AGBL1 c.3044G>C (p.Cys1015Ser) variant (rs181958589) has been reported as likely benign by laboratories in ClinVar (Variation ID: 88758). GnomAD 4.1.0 frequency is 0.001952 with 6 homozygotes. This frequencyt and number of homozygotes are not compatible with a variant causing the disease.
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center RCV000074409 SCV004014852 likely benign Corneal dystrophy, Fuchs endothelial, 8 2023-07-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004584605 SCV005074578 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing AGBL1: BP4, BS1
OMIM RCV000074409 SCV000106021 pathogenic Corneal dystrophy, Fuchs endothelial, 8 2013-10-03 no assertion criteria provided literature only

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