ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5914C>T (p.Leu1972Phe) (rs1222940653)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570954 SCV000667512 uncertain significance Hereditary cancer-predisposing syndrome 2016-02-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Color RCV000570954 SCV000687052 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-11 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780849 SCV000918459 uncertain significance not specified 2017-11-09 criteria provided, single submitter clinical testing Variant summary: The APC c.5914C>T (p.Leu1972Phe) variant located in the adenomatous polyposis coli protein repeat involves the alteration of a conserved nucleotide and 3/4 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). However, these predictions have yet to be functionally assessed. This variant was found in 1/245698 control chromosomes (gnomAD) at a frequency of 0.0000041, which does not exceed the estimated maximal expected allele frequency of a pathogenic APC variant (0.0000714). A publication< Mandelker_2017, cites the variant to be observed in a tumor sample with limited information (ie, co-occurrence, cosegregation data, germline assessment was not provided). Therefore, due to limited available information such as absence of clinical information and the lack of functional studies, the variant is classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.

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