ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.495_496+16del (rs1555059522)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000576471 SCV000678183 likely pathogenic Ataxia-telangiectasia syndrome 2017-03-30 criteria provided, single submitter clinical testing
Invitae RCV000576471 SCV001221141 likely pathogenic Ataxia-telangiectasia syndrome 2019-04-24 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing part of exon 5 (c.495_496+16del) of the ATM gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 487452). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). 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.
Color RCV001191912 SCV001359847 likely pathogenic Hereditary cancer-predisposing syndrome 2018-12-24 criteria provided, single submitter clinical testing

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