ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.9079A>G (p.Ser3027Gly)

dbSNP: rs763152094
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000772044 SCV000905063 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001856008 SCV002301336 uncertain significance Ataxia-telangiectasia syndrome 2022-09-30 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 627905). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is present in population databases (rs763152094, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 3027 of the ATM protein (p.Ser3027Gly).

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