ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.2320del (p.Ile774fs)

dbSNP: rs757500301
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001387917 SCV001588672 pathogenic not provided 2022-11-23 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Ile774Tyrfs*5) in the ATR gene. It is expected to result in an absent or disrupted protein product. 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 affected with ATR-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 376356).
Database of Curated Mutations (DoCM) RCV000429278 SCV000505742 not provided Endometrium neoplasm 2016-03-10 no assertion provided literature only

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