ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.698_700del (p.Lys233_Ala234delinsThr) (rs1560274283)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692164 SCV000819974 pathogenic TP63-Related Spectrum Disorders 2018-07-13 criteria provided, single submitter clinical testing This variant, c.698_700delAAG, results in the deletion of two amino acids from the TP63 protein, along with the insertion of a new amino acid (p.Lys233_Ala234delinsThr), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo an individual with a TP63-related disorder (Invitae). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids is currently unknown. For these reasons, this variant has been classified as Pathogenic.

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