ClinVar Miner

Submissions for variant NM_007348.4(ATF6):c.709C>T (p.Gln237Ter)

dbSNP: rs1571143590
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986452 SCV001135459 pathogenic Achromatopsia 7 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869334 SCV002228761 pathogenic not provided 2021-10-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln237*) in the ATF6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATF6 are known to be pathogenic (PMID: 26029869, 26063662, 26070061). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ATF6-related conditions. ClinVar contains an entry for this variant (Variation ID: 801569). For these reasons, this variant has been classified as Pathogenic.

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