ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.18A>C (p.Ser6=) (rs573130482)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000213043 SCV000211771 benign not specified 2014-09-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000161041 SCV000214591 likely benign Hereditary cancer-predisposing syndrome 2014-10-20 criteria provided, single submitter clinical testing
Invitae RCV000589460 SCV000253307 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000213043 SCV000602264 likely benign not specified 2017-05-17 criteria provided, single submitter clinical testing
Color RCV000161041 SCV000686724 likely benign Hereditary cancer-predisposing syndrome 2017-05-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000213043 SCV000697434 likely benign not specified 2019-05-10 criteria provided, single submitter clinical testing Variant summary: TP53 c.18A>C alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.2e-05 in 250726 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.18A>C has been reported in the literature in an individual affected with osteosarcoma (Mirabello_2015). This report does not provide unequivocal conclusions about association of the variant with Li-Fraumeni Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589460 SCV000888662 likely benign not provided 2017-05-17 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000213043 SCV000692103 likely benign not specified no assertion criteria provided clinical testing

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