ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.322_339del (p.Gly108_Phe113del)

dbSNP: rs886039495
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255088 SCV000322152 likely pathogenic not provided 2015-08-17 criteria provided, single submitter clinical testing To our knowledge, the c.322_339del18 variant in the TP53 gene has not been published as apathogenic variant, nor has it been reported as a benign variant. The c.322_339del18 variant causesan in-frame deletion of six amino acids starting with codon glycine 108, denotedp.Gly108_Phe113del. The c.322_339del18 variant was not observed in approximately 6,500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common benign variant in these populations. Therefore, this variant is likelypathogenic; however, the possibility that it is benign cannot be excluded.
Labcorp Genetics (formerly Invitae), Labcorp RCV001855008 SCV002133055 pathogenic Li-Fraumeni syndrome 2021-11-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 265351). This variant has not been reported in the literature in individuals affected with TP53-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.322_339del, results in the deletion of 6 amino acid(s) of the TP53 protein (p.Gly108_Phe113del), but otherwise preserves the integrity of the reading frame. This variant disrupts a region of the TP53 protein in which other variant(s) (p.Arg110Pro) have been determined to be pathogenic (PMID: 12826609, 16778209, 21445056, 21552135, 23894400, 23897043, 24076587, 29070607; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV002288948 SCV002582407 likely pathogenic Hereditary cancer-predisposing syndrome 2022-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002288947 SCV002583069 likely pathogenic Li-Fraumeni syndrome 1 2022-06-18 criteria provided, single submitter clinical testing

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