ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4357_4358delinsTT (p.Pro1453Phe)

dbSNP: rs1580647017
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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 RCV001022347 SCV001184072 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-12 criteria provided, single submitter clinical testing The c.4357_4358delCCinsTT variant, located in coding exon 15 of the APC gene, results from an in-frame deletion of CC and insertion of TT at nucleotide positions 4357 to 4358. This results in the substitution of the proline residue for a phenylalanine residue at codon 1453, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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