ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3803T>C (p.Val1268Ala)

dbSNP: rs1269513731
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001299847 SCV001488959 uncertain significance Ataxia-telangiectasia syndrome 2020-10-03 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ATM protein function. This variant has not been reported in the literature in individuals with ATM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with alanine at codon 1268 of the ATM protein (p.Val1268Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine.
GeneDx RCV001773605 SCV002002555 uncertain significance not provided 2021-02-03 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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