ClinVar Miner

Submissions for variant NM_001201543.2(FAM161A):c.1205C>G (p.Ser402Ter)

dbSNP: rs1553354522
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658866 SCV000780664 likely pathogenic not provided 2018-07-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199813 SCV001162510 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research
Invitae RCV000658866 SCV003343252 pathogenic not provided 2022-04-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser402*) in the FAM161A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FAM161A are known to be pathogenic (PMID: 20705278, 20705279, 24651477). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FAM161A-related conditions. ClinVar contains an entry for this variant (Variation ID: 546863). For these reasons, this variant has been classified as Pathogenic.

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