Submissions for variant NM_000051.3(ATM):c.2569C>G (p.Leu857Val) (rs876659486)

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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	RCV000215421	SCV000276017	uncertain significance	Hereditary cancer-predisposing syndrome	2015-05-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000236914	SCV000293776	uncertain significance	not provided	2015-12-28	criteria provided, single submitter	clinical testing	This variant is denoted ATM c.2569C>G at the cDNA level, p.Leu857Val (L857V) at the protein level, and results in the change of a Leucine to a Valine (CTA>GTA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM Leu857Val 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 Leucine and Valine share similar properties, this is considered a conservative amino acid substitution. ATM Leu857Val occurs at a position where amino acids with properties similar to Leucine are tolerated across species and is not located in a known functional domain (Tavtigian 2009, Stracker 2013). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether ATM Leu857Val is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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