ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6304G>T (p.Ala2102Ser)

dbSNP: rs1565503340
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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 RCV001235509 SCV001408198 uncertain significance Ataxia-telangiectasia syndrome 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 2102 of the ATM protein (p.Ala2102Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ATM-related conditions. 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 C15"). 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.
Natera, Inc. RCV001235509 SCV002083407 uncertain significance Ataxia-telangiectasia syndrome 2021-08-17 no assertion criteria provided clinical testing

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