ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.1395_1412del (p.Lys465_Ile470del)

dbSNP: rs1692921014
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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 RCV001058801 SCV001223397 pathogenic not provided 2022-02-01 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 853892). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the CNGA3 protein in which other variant(s) (p.Ala469Thr) have been determined to be pathogenic (PMID: 18521937, 28041643). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with CNGA3-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.1395_1412del, results in the deletion of 6 amino acid(s) of the CNGA3 protein (p.Lys465_Ile470del), but otherwise preserves the integrity of the reading frame.
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001729786 SCV001571300 likely pathogenic Achromatopsia 2 2021-04-15 no assertion criteria provided research

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