ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1A>T (p.Met1Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV004440130 SCV004930567 pathogenic Familial cancer of breast 2024-01-10 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant is located within the gene translation start codon (p.Met1?) and is predicted to result in abnormal protein translation. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 21665257, 9463314, 21792198, 12552559, 22649200, 22146522, 30549301].

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