ClinVar Miner

Submissions for variant NM_001201543.2(FAM161A):c.1702_1703del (p.Ser568fs)

dbSNP: rs928348793
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001225060 SCV001397295 pathogenic not provided 2024-02-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser568Thrfs*9) 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: 952865). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003462767 SCV004195959 likely pathogenic Retinitis pigmentosa 28 2024-02-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782673 SCV005395094 pathogenic Retinitis pigmentosa 2024-09-10 criteria provided, single submitter clinical testing Variant summary: FAM161A c.1702_1703delTC (p.Ser568ThrfsX9) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 241266 control chromosomes. To our knowledge, no occurrence of c.1702_1703delTC in individuals affected with Retinitis Pigmentosa and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 952865). Based on the evidence outlined above, the variant was classified as pathogenic.
Fulgent Genetics, Fulgent Genetics RCV003462767 SCV005657096 likely pathogenic Retinitis pigmentosa 28 2024-04-17 criteria provided, single submitter clinical testing

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