Submissions for variant NM_000038.6(APC):c.4850_4855del (p.Leu1617_Leu1618del)

dbSNP: rs1057517588

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000411775	SCV000489113	uncertain significance	Familial adenomatous polyposis 1	2016-08-25	criteria provided, single submitter	clinical testing
Invitae	RCV000411775	SCV000552591	uncertain significance	Familial adenomatous polyposis 1	2023-11-10	criteria provided, single submitter	clinical testing	This variant, c.4850_4855del, results in the deletion of 2 amino acid(s) of the APC protein (p.Leu1617_Leu1618del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 371929). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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	RCV000574697	SCV000672611	uncertain significance	Hereditary cancer-predisposing syndrome	2022-05-06	criteria provided, single submitter	clinical testing	The c.4850_4855delTTCTAC variant (also known as p.L1617_L1618del) is located in coding exon 15 of the APC gene. This variant results from an in-frame TTCTAC deletion at nucleotide positions 4850 to 4855. This results in the in-frame deletion of two leucine residues between codons 1617 and 1618. This amino acid region is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health	RCV000574697	SCV000681689	uncertain significance	Hereditary cancer-predisposing syndrome	2019-03-02	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV002230226	SCV004018452	uncertain significance	Familial adenomatous polyposis 1	2023-02-14	criteria provided, single submitter	clinical testing	This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.