ClinVar Miner

Submissions for variant NM_000038.6(APC):c.622C>T (p.Gln208Ter) (rs137854583)

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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 RCV000491262 SCV000579916 pathogenic Hereditary cancer-predisposing syndrome 2016-07-07 criteria provided, single submitter clinical testing The p.Q208* pathogenic mutation (also known as c.622C>T), located in coding exon 5 of the APC gene, results from a C to T substitution at nucleotide position 622. This changes the amino acid from a glutamine to a stop codon within coding exon 5. This mutation has been reported in multiple patients with clinical diagnosis of familial adenomatous polyposis (FAP) or suspicion of attenuated FAP (Su LK et al. Hum. Genet., 2000 Jan;106:101-7; Aceto G et al. Hum. Mutat., 2005 Oct;26:394; Lagarde A et al. J. Med. Genet., 2010 Oct;47:721-2). In addition to the clinical data presented in the literature, 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.
OMIM RCV000000882 SCV000021032 pathogenic Gardner syndrome 2001-07-15 no assertion criteria provided literature only

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