ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6151C>T (p.Leu2051Phe)

dbSNP: rs1591779081
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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 RCV001060940 SCV001225660 uncertain significance Ataxia-telangiectasia syndrome 2020-12-22 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: "Possibly Damaging"; Align-GVGD: "Class C15"). 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 leucine with phenylalanine at codon 2051 of the ATM protein (p.Leu2051Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine.
GeneDx RCV001760023 SCV001989332 uncertain significance not provided 2019-05-02 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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