ClinVar Miner

Submissions for variant NM_001142519.3(FAM111A):c.1706G>A (p.Arg569His) (rs587777011)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419087 SCV000516941 pathogenic not provided 2018-09-11 criteria provided, single submitter clinical testing The R569H variant in the FAM111A gene is a known recurrent variant that is associated with Kenny-Caffey syndrome type 2 (Unger et al., 2013; Nikkel et al., 2013; Guo et al., 2014). The R569H variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Although the R569H variant is a conservative amino acid substitution which occurs at a position that is not conserved, molecular modeling has suggested the R569H substitution may disrupt the binding of FAM111A to partner proteins in the activation of the PTH axis (Unger et al., 2013). We interpret R569H as a pathogenic variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000419087 SCV000861682 pathogenic not provided 2018-06-04 criteria provided, single submitter clinical testing
Mendelics RCV000988563 SCV001138329 pathogenic Osteocraniostenosis 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000050209 SCV000082785 pathogenic Kenny-Caffey syndrome type 2 2014-04-01 no assertion criteria provided literature only
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000050209 SCV000244019 uncertain significance Kenny-Caffey syndrome type 2 2013-06-27 no assertion criteria provided literature only
Clinical Genetics Laboratory,Federal University of Health Sciences of Porto Alegre RCV000050209 SCV000996315 pathogenic Kenny-Caffey syndrome type 2 2014-05-22 no assertion criteria provided research

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