ClinVar Miner

Submissions for variant NM_017565.4(FAM20A):c.406C>T (p.Arg136Ter)

gnomAD frequency: 0.00010  dbSNP: rs144411158
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000023864 SCV002792477 pathogenic Amelogenesis imperfecta type 1G 2022-02-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002513210 SCV003442511 pathogenic not provided 2023-05-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg136*) in the FAM20A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FAM20A are known to be pathogenic (PMID: 21990045, 23434854). This variant is present in population databases (rs144411158, gnomAD 0.04%). This premature translational stop signal has been observed in individual(s) with amelogenesis imperfecta and/or enamel-renal syndrome (PMID: 21549343, 23434854, 28086997). ClinVar contains an entry for this variant (Variation ID: 30879). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV002513210 SCV003853042 pathogenic not provided 2022-09-27 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 28086997, 18597613, 28694781, 23468644, 21549343, 23434854)
OMIM RCV000023864 SCV000045155 pathogenic Amelogenesis imperfecta type 1G 2012-01-01 no assertion criteria provided literature only

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