ClinVar Miner

Submissions for variant NM_001386094.1(AGBL1):c.985A>T (p.Thr329Ser)

gnomAD frequency: 0.00002  dbSNP: rs745458688
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199096 SCV001370091 uncertain significance Corneal dystrophy, Fuchs endothelial, 8 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PP3.
Ambry Genetics RCV004033483 SCV003531648 uncertain significance not specified 2021-12-13 criteria provided, single submitter clinical testing The c.847A>T (p.T283S) alteration is located in exon 9 (coding exon 8) of the AGBL1 gene. This alteration results from a A to T substitution at nucleotide position 847, causing the threonine (T) at amino acid position 283 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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