ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8191G>A (p.Val2731Ile)

dbSNP: rs1215175886
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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 RCV001364571 SCV001560727 uncertain significance Ataxia-telangiectasia syndrome 2023-07-31 criteria provided, single submitter clinical testing 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: 1055837). 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 valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 2731 of the ATM protein (p.Val2731Ile). 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.
Baylor Genetics RCV003469601 SCV004210215 uncertain significance Familial cancer of breast 2023-06-30 criteria provided, single submitter clinical testing

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