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
Ambry Genetics RCV000161041 SCV000214591 likely benign Hereditary cancer-predisposing syndrome 2014-10-20 criteria provided, single submitter clinical testing
Color RCV000161041 SCV000686724 likely benign Hereditary cancer-predisposing syndrome 2017-05-01 criteria provided, single submitter clinical testing
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.
Integrated Genetics/Laboratory Corporation of America RCV000589460 SCV000697434 uncertain significance not provided 2017-04-27 criteria provided, single submitter clinical testing Variant summary: The TP53 c.18A>C (p.Ser6Ser) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. This variant is located in the p53 transactivation domain (IPR013872) (InterPro). One in silico tool predicts a benign outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant of interest has been found in a large, broad control population, ExAC in 1/118110 control chromosomes at a frequency of 0.0000085, which does not exceed the estimated maximal expected allele frequency of a pathogenic TP53 variant (0.0000398). Multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign, without evidence for independent review. IARC TP53 database lists this variant as "silent". The variant of interest was reported in one affected individual in one study, without co-occurrence or co-segregation data and was not evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000197205 SCV000253307 likely benign Li-Fraumeni syndrome 2017-11-13 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
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000213043 SCV000602264 likely benign not specified 2017-05-17 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589460 SCV000888662 likely benign not provided 2017-05-17 criteria provided, single submitter clinical testing

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