ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.677G>C (p.Gly226Ala)

dbSNP: rs970212462
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001223379 SCV001395526 uncertain significance Li-Fraumeni syndrome 2019-08-15 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. An experimental study in yeast has shown that this variant does not impair the transcriptional transactivation activity of the TP53 protein (PMID: 12826609). This variant has not been reported in the literature in individuals with TP53-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with alanine at codon 226 of the TP53 protein (p.Gly226Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine.
Fulgent Genetics, Fulgent Genetics RCV002497761 SCV002806184 uncertain significance Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma; Colorectal cancer; Bone marrow failure syndrome 5 2021-11-29 criteria provided, single submitter clinical testing

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