ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5501_5506del (p.Val1834_Arg1835del) (rs587778029)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130157 SCV000184992 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-01 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Counsyl RCV000412451 SCV000489368 uncertain significance Familial adenomatous polyposis 1 2016-09-30 criteria provided, single submitter clinical testing
Invitae RCV000412451 SCV000552723 uncertain significance Familial adenomatous polyposis 1 2019-12-26 criteria provided, single submitter clinical testing This sequence change deletes 6 nucleotides from exon 16 of the APC mRNA (c.5501_5506delTCAGAG). This leads to the deletion of 2 amino acid residues in the APC protein (p.Val1834_Arg1835del) but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs587778029, ExAC 0.02%). This variant has been reported in two family members affected with multiple polyps and colon cancer, as well as another unaffected family member (PMID: 25604157). ClinVar contains an entry for this variant (Variation ID: 141574). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000130157 SCV000681744 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-17 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758734 SCV000887538 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000120011 SCV001363498 uncertain significance not specified 2019-02-08 criteria provided, single submitter clinical testing Variant summary: APC c.5501_5506delTCAGAG (p.Val1834_Arg1835del) results in an in-frame deletion that is predicted to remove 2 amino acids from the encoded protein. The variant allele was found at a frequency of 5.1e-05 in 276620 control chromosomes, predominantly at a frequency of 0.00016 within the South Asian subpopulation in the gnomAD database. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.5501_5506delTCAGAG has been reported in the literature in a family affected with Familial Adenomatous Polyposis, where this variant did not segregate with disease (Out_2015). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
ITMI RCV000120011 SCV000084141 not provided not specified 2013-09-19 no assertion provided reference population

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