ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4910-1G>T

dbSNP: rs1060501706
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000477465 SCV000547145 likely pathogenic Ataxia-telangiectasia syndrome 2021-01-28 criteria provided, single submitter clinical testing In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in ATM are known to be pathogenic (PMID: 10817650, 19781682). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic. This variant has not been reported in the literature in individuals with a ATM-related disease. This sequence change affects an acceptor splice site in intron 32 of the ATM gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV003155942 SCV004932459 likely pathogenic Familial cancer of breast 2024-01-25 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.
BRCAlab, Lund University RCV003155942 SCV002588888 likely pathogenic Familial cancer of breast 2022-08-26 no assertion criteria provided clinical testing

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