ClinVar Miner

Submissions for variant NM_017565.4(FAM20A):c.907_908del (p.Ser303fs)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003559245 SCV004278695 pathogenic not provided 2022-12-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser303Cysfs*76) in the FAM20A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FAM20A are known to be pathogenic (PMID: 21990045, 23434854). This variant is present in population databases (rs750880244, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with FAM20A-related conditions (PMID: 23434854). It has also been observed to segregate with disease in related individuals. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005014750 SCV005651037 pathogenic Amelogenesis imperfecta type 1G 2024-04-05 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.