ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.1663-5T>G

dbSNP: rs964530890
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001856921 SCV002108863 likely pathogenic not provided 2021-08-09 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Studies have shown that this variant is associated with altered splicing, but the impact on the resulting protein product is unknown (PMID: 16319819). ClinVar contains an entry for this variant (Variation ID: 427706). This variant has been observed in individual(s) with achromatopsia (PMID: 16319819, 28795510). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This sequence change falls in intron 14 of the CNGB3 gene. It does not directly change the encoded amino acid sequence of the CNGB3 protein.
Fulgent Genetics, Fulgent Genetics RCV000497512 SCV005679202 likely pathogenic Achromatopsia 3 2024-02-18 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV000497512 SCV000575855 likely pathogenic Achromatopsia 3 2017-03-27 no assertion criteria provided research

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