ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.865C>G (p.Leu289Val) (rs1555525154)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000588420 SCV000697448 uncertain significance not provided 2016-10-06 criteria provided, single submitter clinical testing Variant summary: The TP53 c.865C>G (p.Leu289Val) variant involves the alteration of a non- conserved nucleotide and is located in the p53-DNA-binding domain with 3/5 in silico tools predicting a benign outcome. The variant is absent from control dataset of ExAC and has not, to our knowledge, been reported in affected individuals via published reports or cited by a reputable database/clinical laboratory. Lastly, c.865C>G was identified in an individual tested positive for c.175C>T(p.Q59*) in NBN gene. Taking together, the variant was classified as VUS.

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