ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1463T>C (p.Leu488Pro)

dbSNP: rs368434773
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002388186 SCV002697196 uncertain significance Hereditary cancer-predisposing syndrome 2020-04-28 criteria provided, single submitter clinical testing The p.L488P variant (also known as c.1463T>C), located in coding exon 11 of the APC gene, results from a T to C substitution at nucleotide position 1463. The leucine at codon 488 is replaced by proline, 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.
3DMed Clinical Laboratory Inc RCV000677774 SCV000803930 uncertain significance Colon adenocarcinoma 2018-01-18 no assertion criteria provided clinical testing

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