ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2124+6A>T

gnomAD frequency: 0.00001  dbSNP: rs550998406
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437197 SCV000526572 likely benign not specified 2016-04-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000457971 SCV000546968 uncertain significance Ataxia-telangiectasia syndrome 2023-12-18 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the ATM gene. It does not directly change the encoded amino acid sequence of the ATM protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs550998406, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 385333). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Color Diagnostics, LLC DBA Color Health RCV001186650 SCV001353175 likely benign Hereditary cancer-predisposing syndrome 2019-11-01 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001186650 SCV002534121 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-28 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV004591218 SCV005082844 likely benign Familial cancer of breast 2024-05-07 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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