ClinVar Miner

Submissions for variant NM_017565.4(FAM20A):c.527G>A (p.Arg176Gln)

gnomAD frequency: 0.00019  dbSNP: rs140917285
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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 RCV001909901 SCV002184738 uncertain significance not provided 2021-08-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 176 of the FAM20A protein (p.Arg176Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs140917285, ExAC 0.06%). This variant has not been reported in the literature in individuals affected with FAM20A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV002484440 SCV002792708 uncertain significance Amelogenesis imperfecta type 1G 2022-05-12 criteria provided, single submitter clinical testing

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