ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.913A>T (p.Lys305Ter)

dbSNP: rs1597360340
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001018912 SCV001180207 pathogenic Hereditary cancer-predisposing syndrome 2018-10-30 criteria provided, single submitter clinical testing The p.K305* pathogenic mutation (also known as c.913A>T), located in coding exon 7 of the TP53 gene, results from an A to T substitution at nucleotide position 913. This changes the amino acid from a lysine to a stop codon within coding exon 7. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Invitae RCV003509646 SCV004315207 pathogenic Li-Fraumeni syndrome 2023-08-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys305*) in the TP53 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 823045). 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).
Laboratory for Genotyping Development, RIKEN RCV003160179 SCV002758164 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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