ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3154-1_3154delinsTT

dbSNP: rs2081657007
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001048650 SCV001212664 likely pathogenic Ataxia-telangiectasia syndrome 2023-10-06 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 22 (c.3154-1_3154delinsTT) of the ATM gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. 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: 845562). 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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