ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2922-1G>A

dbSNP: rs1555084931
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia RCV001255860 SCV001424040 pathogenic Ataxia-telangiectasia syndrome criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004035355 SCV004932293 likely pathogenic Familial cancer of breast 2024-01-18 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 16864838, 14695534]. Functional studies indicate this variant impacts protein function [PMID: 16864838, 14695534].

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