ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5506G>A (p.Asp1836Asn)

dbSNP: rs2135942560
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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 RCV001359021 SCV001554881 uncertain significance Ataxia-telangiectasia syndrome 2020-06-28 criteria provided, single submitter clinical testing 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 aspartic acid with asparagine at codon 1836 of the ATM protein (p.Asp1836Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. 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 C0"). 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.
Baylor Genetics RCV004570868 SCV005057191 uncertain significance Familial cancer of breast 2023-11-28 criteria provided, single submitter clinical testing

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