ClinVar Miner

Submissions for variant NM_017565.4(FAM20A):c.757T>C (p.Tyr253His)

dbSNP: rs2143526028
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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 RCV001900308 SCV002146294 uncertain significance not provided 2021-10-13 criteria provided, single submitter clinical testing 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. This sequence change replaces tyrosine with histidine at codon 253 of the FAM20A protein (p.Tyr253His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is not present in population databases (ExAC no frequency). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").
Fulgent Genetics, Fulgent Genetics RCV002490072 SCV002793495 uncertain significance Amelogenesis imperfecta type 1G 2021-11-16 criteria provided, single submitter clinical testing

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