ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3287T>C (p.Leu1096Ser)

dbSNP: rs2082114508
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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 RCV001211693 SCV001383245 uncertain significance Ataxia-telangiectasia syndrome 2022-03-31 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: 941834). 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 serine, which is neutral and polar, at codon 1096 of the ATM protein (p.Leu1096Ser).
Natera, Inc. RCV001211693 SCV002082307 uncertain significance Ataxia-telangiectasia syndrome 2021-08-16 no assertion criteria provided clinical testing

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