ClinVar Miner

Submissions for variant NM_174905.4(FAM98C):c.844C>T (p.Arg282Ter)

gnomAD frequency: 0.00004  dbSNP: rs201037487
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000256417 SCV000322770 likely pathogenic Asphyxiating thoracic dystrophy 3 no assertion criteria provided research Loss of function, autozygosity mapping, the only segregating variant in exome.
Gene Friend Way, National Innovation Center RCV003313949 SCV004013890 likely pathogenic Autism spectrum disorder 2023-07-28 no assertion criteria provided clinical testing Loss of function mutation. FAM98C has been identified as ASD-risk gene (PMID: 31398340). In our study, a child diagnosed with Autism Spectrum Disorder is heterozygote for this FAM98C mutation.

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