ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1972G>C (p.Asp658His)

dbSNP: rs1343017824
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001212636 SCV001384225 uncertain significance Ataxia-telangiectasia syndrome 2020-05-03 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; 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. 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 histidine at codon 658 of the ATM protein (p.Asp658His). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and histidine.
GeneDx RCV001760186 SCV002000918 uncertain significance not provided 2020-03-17 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV004570463 SCV005056973 uncertain significance Familial cancer of breast 2024-02-19 criteria provided, single submitter clinical testing

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