ClinVar Miner

Submissions for variant NM_001201543.2(FAM161A):c.847C>T (p.Arg283Ter)

dbSNP: rs748847284
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658867 SCV000780665 likely pathogenic not provided 2018-07-01 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761236 SCV000891192 likely pathogenic Retinitis pigmentosa 28 2017-11-27 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199815 SCV001162512 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research
Invitae RCV000658867 SCV001579572 pathogenic not provided 2023-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg283*) 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 present in population databases (rs748847284, gnomAD 0.006%). 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: 546864). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000761236 SCV002785395 likely pathogenic Retinitis pigmentosa 28 2021-07-20 criteria provided, single submitter clinical testing
Baylor Genetics RCV000761236 SCV004195932 likely pathogenic Retinitis pigmentosa 28 2023-09-28 criteria provided, single submitter clinical testing

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