ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.839T>C (p.Ile280Thr) (rs587782080)

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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 RCV000130576 SCV000185448 uncertain significance Hereditary cancer-predisposing syndrome 2013-12-20 criteria provided, single submitter clinical testing The p.I280T variant (also known as c.839T>C), located in coding exon 6 of the ATM gene, results from a T to C substitution at nucleotide position 839. The isoleucine at codon 280 is replaced by threonine, 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. To date, this alteration has been detected with an allele frequency of approximately 0.01% (greater than 9600 alleles tested) in our clinical cohort (includes this individual). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be benign and deleterious by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of p.I280T remains unclear.

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