ClinVar Miner

Submissions for variant NM_001201543.2(FAM161A):c.1150dup (p.Thr384fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003834314 SCV004637930 pathogenic not provided 2023-05-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr384Asnfs*18) 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 (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with FAM161A-related conditions. For these reasons, this variant has been classified as Pathogenic.

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