ClinVar Miner

Submissions for variant NM_017565.4(FAM20A):c.332_352dup (p.Leu117_Ala118insGlyAlaGluAspSerLeuLeu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002596869 SCV002946561 uncertain significance not provided 2022-05-19 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant, c.332_352dup, results in the insertion of 7 amino acid(s) of the FAM20A protein (p.Gly111_Leu117dup), but otherwise preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with FAM20A-related conditions. 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.
Fulgent Genetics, Fulgent Genetics RCV005019254 SCV005650517 uncertain significance Amelogenesis imperfecta type 1G 2024-06-04 criteria provided, single submitter clinical testing

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