ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4343C>A (p.Thr1448Asn)

dbSNP: rs907886109
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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 RCV001022327 SCV001184046 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-18 criteria provided, single submitter clinical testing The p.T1448N variant (also known as c.4343C>A), located in coding exon 15 of the APC gene, results from a C to A substitution at nucleotide position 4343. The threonine at codon 1448 is replaced by asparagine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, in silico predictors for this gene do not accurately predict pathogenicity. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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