ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.708C>A (p.Tyr236Ter)

dbSNP: rs1597365202
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477387 SCV004221370 pathogenic not provided 2023-05-23 criteria provided, single submitter clinical testing The TP53 c.708C>A (p.Tyr236*) variant causes the premature termination of TP53 protein synthesis. This variant has been reported in the published literature in a woman affected with breast cancer who had a son affected with rhabdomyosarcoma (PMID: 22851211 (2012)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic.

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