ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1531G>T (p.Gly511Ter)

dbSNP: rs876658811
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220669 SCV000274533 pathogenic Hereditary cancer-predisposing syndrome 2019-07-12 criteria provided, single submitter clinical testing The p.G511* pathogenic mutation (also known as c.1531G>T), located in coding exon 11 of the APC gene, results from a G to T substitution at nucleotide position 1531. This changes the amino acid from a glycine to a stop codon within coding exon 11. 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 RCV003765410 SCV002230237 pathogenic Familial adenomatous polyposis 1 2021-01-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 230854). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly511*) in the APC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668).

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