ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.934ATC[2] (p.Ile314del)

dbSNP: rs777878533
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074832 SCV001240432 pathogenic Retinal dystrophy 2019-07-18 criteria provided, single submitter clinical testing
Invitae RCV001389647 SCV001591082 pathogenic not provided 2022-07-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 635158). This variant is also known as Ile312del. This variant has been observed in individual(s) with achromatopsia (PMID: 11536077, 24676353, 25616768, 28159970, 30682209). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs777878533, gnomAD 0.009%). This variant, c.940_942del, results in the deletion of 1 amino acid(s) of the CNGA3 protein (p.Ile314del), but otherwise preserves the integrity of the reading frame.
GeneDx RCV001389647 SCV002577116 pathogenic not provided 2022-03-29 criteria provided, single submitter clinical testing In-frame deletion of one amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29706639, 11536077, 28159970, 30682209, 24676353, 25616768, 31456290)
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV000786011 SCV000924651 likely pathogenic Achromatopsia 2017-12-13 no assertion criteria provided research
Sharon lab, Hadassah-Hebrew University Medical Center RCV000786011 SCV001161010 pathogenic Achromatopsia 2019-06-23 no assertion criteria provided research

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