ClinVar Miner

Submissions for variant NM_001201543.2(FAM161A):c.1388del (p.Pro463fs)

dbSNP: rs2105080884
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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 RCV001388301 SCV001589234 pathogenic not provided 2022-04-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1074861). This variant has not been reported in the literature in individuals affected with FAM161A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro463Hisfs*21) 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).

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