ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8084G>C (p.Gly2695Ala)

dbSNP: rs1060501680
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788614 SCV000927785 uncertain significance not provided 2018-07-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000792375 SCV000931670 uncertain significance Ataxia-telangiectasia syndrome 2021-01-15 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals with ATM-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with alanine at codon 2695 of the ATM protein (p.Gly2695Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine.

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