ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5911T>G (p.Ser1971Ala)

dbSNP: rs1580665469
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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 RCV001024676 SCV001186737 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-09 criteria provided, single submitter clinical testing The p.S1971A variant (also known as c.5911T>G), located in coding exon 15 of the APC gene, results from a T to G substitution at nucleotide position 5911. The serine at codon 1971 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly 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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