ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.713T>A (p.Ile238Asn)

dbSNP: rs149116878
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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 RCV001206486 SCV001377796 uncertain significance Ataxia-telangiectasia syndrome 2019-09-10 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C45"). 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 isoleucine with asparagine at codon 238 of the ATM protein (p.Ile238Asn). The isoleucine residue is moderately conserved and there is a large physicochemical difference between isoleucine and asparagine.

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