ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2830A>C (p.Asn944His)

dbSNP: rs749720558
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001016719 SCV001177707 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-20 criteria provided, single submitter clinical testing The p.N944H variant (also known as c.2830A>C), located in coding exon 15 of the APC gene, results from an A to C substitution at nucleotide position 2830. The asparagine at codon 944 is replaced by histidine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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