ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5795C>T (p.Thr1932Ile)

dbSNP: rs876660658
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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 RCV000215529 SCV000278270 uncertain significance Hereditary cancer-predisposing syndrome 2015-09-11 criteria provided, single submitter clinical testing The p.T1932I variant (also known as c.5795C>T), located in coding exon 15 of the APC gene, results from a C to T substitution at nucleotide position 5795. The threonine at codon 1932 is replaced by isoleucine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6502 samples (13004 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.003% (greater than 32000 alleles tested) in our clinical cohort. This amino acid position is 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 p.T1932I remains unclear.
Color Diagnostics, LLC DBA Color Health RCV000215529 SCV000681762 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-18 criteria provided, single submitter clinical testing

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