ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4977_5003dup (p.Asp1659_Asn1667dup) (rs1064793736)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485607 SCV000566900 uncertain significance not provided 2015-06-10 criteria provided, single submitter clinical testing This insertion of 27 nucleotides in APC is denoted c.4977_5003dup27 at the cDNA level and p.D1659_N1667dup at the protein level. The normal sequence, with the bases that are inserted in braces, is GTGA[dup27]GTTA. This in frame insertion occurs in a region which is conserved through mammals and is located within SAMP repeats/axin binding domain (Azzopardi 2008). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Since in frame duplications may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider APC D1659_N1667dup to be a variant of uncertain significance.
Invitae RCV000525979 SCV000647550 uncertain significance Familial adenomatous polyposis 1 2018-11-06 criteria provided, single submitter clinical testing This variant, c.4977_5003dup, results in the insertion of 9 amino acids to the APC protein (p.Asp1659_Asn1667dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with APC-related disease. ClinVar contains an entry for this variant (Variation ID: 419228). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected 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.

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