ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.718_741del (p.Ser240_Asn247del)

dbSNP: rs397516437
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036534 SCV000060189 uncertain significance not specified 2011-02-23 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Ser240_Asn2 47del variant has not been previously reported in the literature or been previou sly identified by our laboratory. This variant results in the deletion of eight amino acids. This deletion occurs in a highly conserved region of exon 7, where other pathogenic variants have been observed. However, without additional data, we cannot determine conclusively the effect this deletion will have on the norm al function of TP53.

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