ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8919G>C (p.Arg2973Ser)

dbSNP: rs786203613
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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 RCV001906824 SCV002183020 uncertain significance Ataxia-telangiectasia syndrome 2021-09-18 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 tolerated. This variant has not been reported in the literature in individuals affected with ATM-related conditions. This sequence change replaces arginine with serine at codon 2973 of the ATM protein (p.Arg2973Ser). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and serine.
Baylor Genetics RCV003471031 SCV004210146 uncertain significance Familial cancer of breast 2023-07-18 criteria provided, single submitter clinical testing

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