ClinVar Miner

Submissions for variant NM_017565.4(FAM20A):c.467G>A (p.Arg156Gln)

gnomAD frequency: 0.00033  dbSNP: rs146809464
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001923836 SCV002192715 uncertain significance not provided 2022-02-02 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 156 of the FAM20A protein (p.Arg156Gln). This variant is present in population databases (rs146809464, gnomAD 0.04%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002491923 SCV002791470 uncertain significance Amelogenesis imperfecta type 1G 2024-06-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002561316 SCV003707120 uncertain significance Inborn genetic diseases 2021-06-18 criteria provided, single submitter clinical testing The c.467G>A (p.R156Q) alteration is located in exon 2 (coding exon 2) of the FAM20A gene. This alteration results from a G to A substitution at nucleotide position 467, causing the arginine (R) at amino acid position 156 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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