ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.1350-3T>C (rs587783323)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000145290 SCV000192367 uncertain significance Seckel syndrome 1 2013-03-28 criteria provided, single submitter clinical testing
Invitae RCV001326530 SCV001517563 uncertain significance not provided 2020-02-10 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the ATR gene. It does not directly change the encoded amino acid sequence of the ATR protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATR-related conditions. ClinVar contains an entry for this variant (Variation ID: 157964). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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.

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