ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.1079G>C (p.Gly360Ala) (rs35993958)

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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 RCV000130776 SCV000185669 likely benign Hereditary cancer-predisposing syndrome 2017-09-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Intact protein function observed in appropriate functional assay(s),In silico models in agreement (benign)
Color RCV000130776 SCV000910695 benign Hereditary cancer-predisposing syndrome 2015-10-15 criteria provided, single submitter clinical testing
Counsyl RCV000663262 SCV000786491 likely benign Li-Fraumeni syndrome 1 2018-05-16 criteria provided, single submitter clinical testing
GeneDx RCV000254695 SCV000211767 likely benign not specified 2018-01-02 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 RCV000586942 SCV000697424 likely benign not provided 2017-06-09 criteria provided, single submitter clinical testing Variant summary: The TP53 c.1079G>C (p.Gly360Ala) variant involves the alteration of a non-conserved nucleotide. 3/5 in silico tools predict a benign outcome for this variant. This variant was found in 30/114844 control chromosomes at a frequency of 0.0002612, which is approximately 7 times the estimated maximal expected allele frequency of a pathogenic TP53 variant (0.0000398), suggesting this variant is likely a benign polymorphism. The variant has been reported in the literature, without strong evidence for causality. Some functional analysis reports the variant to have slightly reduced activity, however additional functional and clinical studies are needed to conclusively classify this variant as benign. Multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as likely benign.
Invitae RCV000168299 SCV000218979 likely benign Li-Fraumeni syndrome 2018-01-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000586942 SCV000806232 likely benign not provided 2017-09-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000254695 SCV000602260 benign not specified 2015-06-24 criteria provided, single submitter clinical testing

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