ClinVar Miner

Submissions for variant NM_001312909.2(FAM111A):c.364C>T (p.Gln122Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital Muenster RCV004584564 SCV002578104 pathogenic See cases 2021-12-15 criteria provided, single submitter clinical testing ACMG categories: PVS1,PM2,PP3
PreventionGenetics, part of Exact Sciences RCV003408213 SCV004107039 uncertain significance FAM111A-related disorder 2022-11-21 criteria provided, single submitter clinical testing The FAM111A c.364C>T variant is predicted to result in premature protein termination (p.Gln122*). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0039% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-58919505-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV003738179 SCV004553490 uncertain significance not provided 2024-01-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln122*) in the FAM111A gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 490 amino acid(s) of the FAM111A protein. This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with FAM111A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1708456). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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