ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.1096T>G (p.Ser366Ala) (rs17881470)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000161039 SCV000214696 uncertain significance Hereditary cancer-predisposing syndrome 2017-07-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000161039 SCV000910821 likely benign Hereditary cancer-predisposing syndrome 2015-12-29 criteria provided, single submitter clinical testing
GeneDx RCV000122179 SCV000211768 likely benign not specified 2018-02-14 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.
ITMI RCV000122179 SCV000086394 not provided not specified 2013-09-19 no assertion provided reference population
Integrated Genetics/Laboratory Corporation of America RCV000588647 SCV000697425 likely benign not provided 2017-01-03 criteria provided, single submitter clinical testing Variant summary: The TP53 c.1096T>G (p.Ser366Ala) variant involves the alteration of a non-conserved nucleotide. 4/5 in silico tools predict a benign outcome for this variant. This variant was found in 6/107910 control chromosomes, predominantly observed in the Latino subpopulation at a frequency of 0.0004168 (4/9598). This frequency is about 9 times the estimated maximal expected allele frequency of a pathogenic TP53 variant (0.0000469), suggesting this is likely a benign polymorphism found primarily in the populations of Latino origin. This variant has been reported in individuals affected with LFS, BrC, and bladder cancer, without strong evidence for causality. Functional studies showed that variant with comparable level of residual activity as WT. In addition, two clinical diagnostic laboratories classified this variant as uncertain significance and one clinical laboratory classified this variant as likely benign, all without evidence to independently evaluate. Taken together, considering the high allele frequency in population controls and comparable residual activity as WT, this variant is classified as likely benign.
Invitae RCV000197399 SCV000254624 likely benign Li-Fraumeni syndrome 2017-12-26 criteria provided, single submitter clinical testing

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