ClinVar Miner

Submissions for variant NM_017565.4(FAM20A):c.590-5T>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005022584 SCV005651057 likely pathogenic Amelogenesis imperfecta type 1G 2023-12-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005112690 SCV005803798 pathogenic not provided 2024-11-05 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the FAM20A gene. It does not directly change the encoded amino acid sequence of the FAM20A protein. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product. This variant is present in population databases (rs779913321, gnomAD 0.07%). This variant has been observed in individual(s) with clinical features of enamel-renal syndrome (PMID: 37159186). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. Studies have shown that this variant results in skipping of exon 3, but is expected to preserve the integrity of the reading-frame (PMID: 37159186). For these reasons, this variant has been classified as Pathogenic.

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