ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5177+5G>A (rs759373136)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000777914 SCV000913952 likely pathogenic Hereditary cancer-predisposing syndrome 2018-08-09 criteria provided, single submitter clinical testing
Counsyl RCV000673901 SCV000799155 uncertain significance Ataxia-telangiectasia syndrome 2018-04-05 criteria provided, single submitter clinical testing
Invitae RCV000673901 SCV000822473 likely pathogenic Ataxia-telangiectasia syndrome 2018-04-18 criteria provided, single submitter clinical testing This sequence change falls in intron 34 of the ATM gene. It does not directly change the encoded amino acid sequence of the ATM protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs759373136, ExAC 0.002%). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in the ATM gene in an individual affected with ataxia-telangiectasia (PMID: 23143971). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this splice variant results in skipping of exon 34 (PMID: 23143971). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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