ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.779_782+13del

dbSNP: rs2543556379
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003391538 SCV004112281 pathogenic TP53-related disorder 2023-04-24 criteria provided, single submitter clinical testing The TP53 c.779_782+13del17 variant is predicted to result in a deletion affecting a canonical splice site. This deletion overlaps the exon 7/intron 7 boundary and is predicted to abolish the conical splice donor site (Alamut Visual Plus v1.6.1). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Variants that disrupt the canonical splice donor site in TP53 are expected to be pathogenic. This variant is interpreted as pathogenic.

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