ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1044G>T (p.Leu348Phe) (rs879254039)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236391 SCV000293263 uncertain significance not provided 2015-10-14 criteria provided, single submitter clinical testing This variant is denoted ATM c.1044G>T at the cDNA level, p.Leu348Phe (L348F) at the protein level, and results in the change of a Leucine to a Phenylalanine (TTG>TTT). This variant has not, to our knowledge, been published in the literature as being pathogenic or benign. ATM Leu348Phe was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Leucine and Phenylalanine share similar properties, this is considered a conservative amino acid substitution. ATM Leu348Phe occurs at a position that is conserved across species and is not located in a known functional domain (Tavtigian 2009). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, it is unclear whether ATM Leu348Phe is pathogenic or benign.
Ambry Genetics RCV000568253 SCV000668164 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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