ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.395C>G (p.Ser132Cys)

dbSNP: rs750969764
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001021523 SCV001183150 likely benign Hereditary cancer-predisposing syndrome 2024-01-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV001207758 SCV001379124 uncertain significance Ataxia-telangiectasia syndrome 2024-01-03 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 132 of the ATM protein (p.Ser132Cys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 824427). 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. 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 RCV003467662 SCV004210256 uncertain significance Familial cancer of breast 2023-06-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001207758 SCV002090845 uncertain significance Ataxia-telangiectasia syndrome 2021-10-18 no assertion criteria provided clinical testing

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