ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1319C>T (p.Ser440Phe) (rs773895161)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213092 SCV000274328 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000213092 SCV000687298 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-11 criteria provided, single submitter clinical testing
GeneDx RCV000483346 SCV000570483 uncertain significance not provided 2016-05-27 criteria provided, single submitter clinical testing This variant is denoted ATM c.1319C>T at the cDNA level, p.Ser440Phe (S440F) at the protein level, and results in the change of a Serine to a Phenylalanine (TCT>TTT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM Ser440Phe was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Serine and Phenylalanine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. ATM Ser440Phe occurs at a position that is not conserved and is not located in a known functional domain (Tavtigian 2009, Stracker 2013). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available evidence, it is unclear whether ATM Ser440Phe is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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