ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6013C>G (p.Leu2005Val)

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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 RCV002305071 SCV002591834 uncertain significance Ataxia-telangiectasia syndrome 2023-05-07 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1719983). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2005 of the ATM protein (p.Leu2005Val).
Baylor Genetics RCV003471317 SCV004210282 uncertain significance Familial cancer of breast 2023-06-09 criteria provided, single submitter clinical testing

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