ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.1927C>T (p.Arg643Ter)

dbSNP: rs1560311554
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760773 SCV000890668 likely pathogenic not provided 2018-10-11 criteria provided, single submitter clinical testing The R643X variant in the TP63 has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation. The R643X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R643X as a likely pathogenic variant.
OMIM RCV003159544 SCV003853268 pathogenic Limb-mammary syndrome 2023-04-04 no assertion criteria provided literature only

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