ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5937_5939CAA[1] (p.Asn1981del) (rs578171579)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532593 SCV000647616 uncertain significance Familial adenomatous polyposis 1 2018-03-14 criteria provided, single submitter clinical testing This variant, c.5940_5942delCAA, results in the deletion of 1 amino acids of the APC protein (p.Asn1981del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs578171579, ExAC 0.002%). This variant has been reported in an individual affected with neuroblastoma (PMID: 24651015). ClinVar contains an entry for this variant (Variation ID: 470026). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid 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.
Ambry Genetics RCV000561415 SCV000667390 uncertain significance Hereditary cancer-predisposing syndrome 2017-11-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence

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