ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.446_447insT (p.Lys149fs) (rs748993388)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411864 SCV000485330 likely pathogenic Achromatopsia 3 2015-11-20 criteria provided, single submitter clinical testing
Invitae RCV001038514 SCV001201984 pathogenic not provided 2019-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys149Asnfs*30) in the CNGB3 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs748993388, ExAC 0.009%). This variant has been observed to be homozygous in individual(s) with achromatopsia (PMID: 12357335). This variant is also known as c.492_493insT in the literature. ClinVar contains an entry for this variant (Variation ID: 370100). Loss-of-function variants in CNGB3 are known to be pathogenic (PMID: 28795510). For these reasons, this variant has been classified as Pathogenic.

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