ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.601C>G (p.Gln201Glu)

gnomAD frequency: 0.00003  dbSNP: rs886039666
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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 RCV001024812 SCV001186897 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-13 criteria provided, single submitter clinical testing The p.Q201E variant (also known as c.601C>G), located in coding exon 5 of the ATM gene, results from a C to G substitution at nucleotide position 601. The glutamine at codon 201 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001043705 SCV001207464 uncertain significance Ataxia-telangiectasia syndrome 2021-08-06 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. 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 and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with ATM-related conditions. This sequence change replaces glutamine with glutamic acid at codon 201 of the ATM protein (p.Gln201Glu). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and glutamic acid.

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