ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2008_2014delinsTAGTTTTGTA (p.Lys670_His672delinsTer)

dbSNP: rs1554083888
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506562 SCV000600054 pathogenic not provided 2016-09-24 criteria provided, single submitter clinical testing
Invitae RCV003743764 SCV004404087 pathogenic Familial adenomatous polyposis 1 2022-10-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the APC protein in which other variant(s) (p.Tyr2645Lysfs*14) have been determined to be pathogenic (PMID: 1316610, 8381579, 9824584, 22135120, 27081525). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This premature translational stop signal has been observed in individual(s) with clinical features of APC-related conditions (PMID: 23159591). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change creates a premature translational stop signal (p.Lys670*) in the APC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2174 amino acid(s) of the APC protein.

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