ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.9067G>A (p.Gly3023Ser) (rs879253964)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236052 SCV000292973 uncertain significance not provided 2016-01-26 criteria provided, single submitter clinical testing This variant is denoted ATM c.9067G>A at the cDNA level, p.Gly3023Ser (G3023S) at the protein level, and results in the change of a Glycine to a Serine (GGC>AGC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM Gly3023Ser 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 Glycine and Serine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. ATM Gly3023Ser occurs at a position that is conserved across species and is located in the in FATC domain (Stracker 2013). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether ATM Gly3023Ser is pathogenic or benign. We consider it to be a variant of uncertain significance.

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