ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.185_232del (p.Glu62_Pro77del) (rs1567556432)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000780779 SCV000918321 uncertain significance not specified 2017-10-31 criteria provided, single submitter clinical testing Variant summary: The TP53 c.185_232del48 (p.Glu62_Pro77del) variant leads to in-frame deletion of 16 amino acids in non-repetitive region in exon 4. This variant is not located in any domains of the protein, however deletes some interacting regions (CCAR2, HRMT1L2 and WWOX) and motifs (TADI and TADII) (InterPro, UniProt). Variants frequency in the general population cannot be assessed at this time because gnomAD, ExAC, 1000G do not report deletions of this size. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories, nor has it been evaluated for functional impact by in vivo/vitro studies. One internal sample carrying this variant also carries a pathogenic variant STK11 p.R304W. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

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