ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.1358_1359del (p.His453fs)

dbSNP: rs886044646
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000386810 SCV000345777 uncertain significance not provided 2016-09-05 criteria provided, single submitter clinical testing
Invitae RCV000386810 SCV001581555 pathogenic not provided 2020-03-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ATR are known to be pathogenic (PMID: 21228398, 23144622). This variant has not been reported in the literature in individuals with ATR-related conditions. ClinVar contains an entry for this variant (Variation ID: 291086). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His453Argfs*18) in the ATR gene. It is expected to result in an absent or disrupted protein product.

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