ClinVar Miner

Submissions for variant NM_000038.6(APC):c.920A>T (p.His307Leu)

dbSNP: rs869312787
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Department of Laboratory Medicine, University of Washington RCV000210127 SCV000266147 uncertain significance Colorectal cancer, susceptibility to 2015-11-20 criteria provided, single submitter clinical testing
Invitae RCV003743642 SCV000647788 uncertain significance Familial adenomatous polyposis 1 2019-10-22 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. While it is absent from the population and reported in an affected individual, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has been reported in an individual affected with endometrial cancer (PMID: 26845104). ClinVar contains an entry for this variant (Variation ID: 224556). This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with leucine at codon 307 of the APC protein (p.His307Leu). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and leucine.
Ambry Genetics RCV003165518 SCV003866178 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-18 criteria provided, single submitter clinical testing The p.H307L variant (also known as c.920A>T), located in coding exon 8 of the APC gene, results from an A to T substitution at nucleotide position 920. The histidine at codon 307 is replaced by leucine, an amino acid with similar 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.

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