ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.19G>C (p.Asp7His)

dbSNP: rs2078806188
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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 RCV001313217 SCV001503701 uncertain significance Ataxia-telangiectasia syndrome 2021-06-28 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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 7 of the ATM protein (p.Asp7His). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and histidine.
Baylor Genetics RCV004570738 SCV005057027 uncertain significance Familial cancer of breast 2024-02-02 criteria provided, single submitter clinical testing

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