ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.9111G>T (p.Gln3037His)

dbSNP: rs1555152012
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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 RCV000550908 SCV000622886 uncertain significance Ataxia-telangiectasia syndrome 2017-05-21 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with histidine at codon 3037 of the ATM protein (p.Gln3037His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. This variant has not been reported in the literature in individuals with an ATM-related disease. In summary, this variant has uncertain impact on ATM function. The available evidence is currently insufficient to determine its role 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15").
Ambry Genetics RCV004948384 SCV005513442 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-09 criteria provided, single submitter clinical testing The c.9111G>T (p.Q3037H) alteration is located in exon 63 (coding exon 62) of the ATM gene. This alteration results from a G to T substitution at nucleotide position 9111, causing the glutamine (Q) at amino acid position 3037 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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