ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4416A>T (p.Val1472=) (rs773352404)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166366 SCV000217155 likely benign Hereditary cancer-predisposing syndrome 2014-11-06 criteria provided, single submitter clinical testing
Counsyl RCV000412160 SCV000488395 likely benign Familial adenomatous polyposis 1 2016-03-18 criteria provided, single submitter clinical testing
Invitae RCV000412160 SCV000562673 likely benign Familial adenomatous polyposis 1 2017-07-19 criteria provided, single submitter clinical testing
Color RCV000166366 SCV000681664 likely benign Hereditary cancer-predisposing syndrome 2016-12-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588465 SCV000694053 uncertain significance not provided 2016-09-26 criteria provided, single submitter clinical testing Variant summary: The APC c.4416A>T (p.Val1472Val) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 2/121348 control chromosomes at a frequency of 0.0000165, which does not exceed the estimated maximal expected allele frequency of a pathogenic APC variant (0.0000714). In addition, one other clinical diagnostic laboratory classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.

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