Submissions for variant NM_000038.6(APC):c.1703G>T (p.Ser568Ile)

dbSNP: rs962373452

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV001012747	SCV001173239	uncertain significance	Hereditary cancer-predisposing syndrome	2020-07-02	criteria provided, single submitter	clinical testing	The p.S568I variant (also known as c.1703G>T), located in coding exon 13 of the APC gene, results from a G to T substitution at nucleotide position 1703. The serine at codon 568 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001197871	SCV001368654	uncertain significance	Colorectal cancer	2018-11-17	criteria provided, single submitter	clinical testing	This variant was classified as: Uncertain significance. The available evidence favors the pathogenic nature of this variant, however the currently available data is insufficient to conclusively support its pathogenic nature. Thus this variant is classified as Uncertain significance - favor pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PP3.