ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.*6T>A (rs369567704)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420778 SCV000527392 likely benign not specified 2016-05-02 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 RCV000586669 SCV000697421 uncertain significance not provided 2017-05-15 criteria provided, single submitter clinical testing Variant summary: The TP53 c.*6T>A variant involves the alteration of a non-conserved nucleotide in the 3'-UTR. One in silico tool predicts a benign outcome for this variant. This variant was found in 3/121410 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.0002884 (3/10404). This frequency is about 7 times the estimated maximal expected allele frequency of a pathogenic TP53 variant (0.0000398), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. One clinical diagnostic laboratory classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS)-possibly benign until additional information becomes available.

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