ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1419G>A (p.Gln473=) (rs141579422)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000123659 SCV000213211 likely benign Hereditary cancer-predisposing syndrome 2014-09-24 criteria provided, single submitter clinical testing
Color RCV000123659 SCV000681458 likely benign Hereditary cancer-predisposing syndrome 2016-06-24 criteria provided, single submitter clinical testing
Counsyl RCV000198482 SCV000488891 likely benign Familial adenomatous polyposis 1 2016-07-13 criteria provided, single submitter clinical testing
GeneDx RCV000211898 SCV000166998 benign not specified 2014-05-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000589186 SCV000693996 benign not provided 2016-07-01 criteria provided, single submitter clinical testing Variant summary: The APC c.1419G>A (p.Gln473Gln) variant involves the alteration of a conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant, and 3/5 splicing algorithms predict no significant change to normal splicing. Transcript analysis revealed that this variant did not disrupt normal splicing (Kaufmann_JMD_2009; PMID: 9669663). This variant was found in 21/120558 control chromosomes at a frequency of 0.0001742, which is approximately 2 times the estimated maximal expected allele frequency of a pathogenic APC variant (0.0000714), suggesting this variant is likely a benign polymorphism. In addition, several clinical diagnostic laboratories classified this variant as benign/likely benign. Taken together, this variant is classified as Benign.
Invitae RCV000198482 SCV000252578 benign Familial adenomatous polyposis 1 2017-12-25 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000211898 SCV000691714 likely benign not specified no assertion criteria provided clinical testing
PreventionGenetics RCV000211898 SCV000805367 benign not specified 2017-05-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000211898 SCV000600043 likely benign not specified 2017-01-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589186 SCV000887505 benign not provided 2018-03-27 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000123659 SCV000805205 likely benign Hereditary cancer-predisposing syndrome 2018-05-01 no assertion criteria provided clinical testing

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