ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.210A>T (p.Lys70Asn) (rs1064793030)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480401 SCV000564603 uncertain significance not specified 2014-11-06 criteria provided, single submitter clinical testing This variant is denoted ATM c.210A>T at the cDNA level, p.Lys70Asn (K70N) at the protein level, and results in the change of a Lysine to an Asparagine (AAA>AAT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM Lys70Asn 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 Lysine and Asparagine differ in some properties, this is considered a semi-conservative amino acid substitution. ATM Lys70Asn occurs at a position that is highly conserved across species and is not located in a known functional domain. 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 Lys70Asn is pathogenic or benign. We consider it to be a variant of uncertain significance.
Invitae RCV000551041 SCV000622307 uncertain significance Ataxia-telangiectasia syndrome 2019-05-02 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 70 of the ATM protein (p.Lys70Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an ATM-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Counsyl RCV000551041 SCV000800149 uncertain significance Ataxia-telangiectasia syndrome 2018-05-23 criteria provided, single submitter clinical testing

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