ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5762G>C (p.Arg1921Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003237384 SCV003936028 uncertain significance Familial cancer of breast 2023-06-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with threonine at codon 1921 of the ATM protein. The arginine residue is highly conserved and there is a large physicochemical difference between arginine and threonine. This variant is not present in population databases gnomAD. This variant has not been reported in the literature in individuals with ATM-related disease. ClinVar contains no entry for this variant. In-silico predictions show Pathogenic computational verdict based on 10 pathogenic predictions from BayesDel_addAF, DANN, EIGEN, FATHMM-MKL, M-CAP, MVP, MutationAssessor, MutationTaster, SIFT and scSNV-Splicing vs 3 benign predictions from DEOGEN2, LIST-S2 and PrimateAI. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Therefore, it has been classified as a Variant of Uncertain Significance. Pathogenic/likely pathogenic mutations in the ATM gene cause increased susceptibility to breast cancer (OMIM # 114480).

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