ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5266_5268TCT[2] (p.Ser1758del) (rs780061589)

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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 RCV000564841 SCV000667282 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence
Color RCV000564841 SCV000681725 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-10 criteria provided, single submitter clinical testing
Invitae RCV000646408 SCV000768177 uncertain significance Familial adenomatous polyposis 1 2018-11-13 criteria provided, single submitter clinical testing This variant, c.5272_5274delTCT, results in the deletion of 1 amino acid(s) of the APC protein (p.Ser1758del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs780061589, ExAC 0.006%). This variant has not been reported in the literature in individuals with APC-related disease. ClinVar contains an entry for this variant (Variation ID: 482242). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) 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.

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