ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.969A>G (p.Ile323Met)

dbSNP: rs1565375220
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709164 SCV000838478 uncertain significance Ataxia-telangiectasia syndrome 2018-07-02 criteria provided, single submitter clinical testing
Invitae RCV000709164 SCV001213299 uncertain significance Ataxia-telangiectasia syndrome 2019-01-18 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 584775). This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with methionine at codon 323 of the ATM protein (p.Ile323Met). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and methionine.

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