ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6368G>T (p.Ser2123Ile) (rs1064794104)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485279 SCV000567842 uncertain significance not provided 2015-09-04 criteria provided, single submitter clinical testing This variant is denoted ATM c.6368G>T at the cDNA level, p.Ser2123Ile (S2123I) at the protein level, and results in the change of a Serine to an Isoleucine (AGT>ATT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM Ser2123Ile 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 Serine and Isoleucine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. ATM Ser2123Ile occurs at a position that is not conserved and is located in the FAT domain (Stracker 2013, UniProt). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available information, it is unclear whether ATM Ser2123Ile is pathogenic or benign. We consider it to be a variant of uncertain significance.

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