ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8086G>A (p.Val2696Ile)

dbSNP: rs989577687
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000472748 SCV000546930 uncertain significance Ataxia-telangiectasia syndrome 2022-06-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 2696 of the ATM protein (p.Val2696Ile). ClinVar contains an entry for this variant (Variation ID: 407608). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.

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