ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5759G>A (p.Arg1920Gln) (rs587780599)

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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 RCV000164870 SCV000215555 uncertain significance Hereditary cancer-predisposing syndrome 2014-07-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Integrated Genetics/Laboratory Corporation of America RCV000780843 SCV000918450 uncertain significance not specified 2018-01-22 criteria provided, single submitter clinical testing Variant summary: The c.5759G>A (p.Arg1920Gln) in APC gene is a missense variant involves a mildly conserved nucleotide located within the APC_u15 - a short region of natively unstructured sequence lying between the fifth and sixth creatine-rich domains (NCBI conserved domain database). The 3/4 in silico tools used predict benign outcome for this variant, however no functional studies supporting these predictions were published at the time of evaluation. The c.5759G>A was identified in the control population dataset of gnomAD at a low frequency of 0.000004 (1/ 244648 chrs tested). The observed frequency does not exceed the maximum expected allele frequency for a pathogenic variant of 0.000074, suggesting that it is not a common polymorphism. The variant has not, to our knowledge, been reported in FAP patients via published reports, but is cited as VUS by at least one reputable database/clinical laboratory. Taken together, due to lack of supportive evidence, the variant was classified as VUS, until new information becomes available.

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