ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.1619T>A (p.Leu540Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002307148 SCV002604619 likely pathogenic Achromatopsia 3 2022-05-19 criteria provided, single submitter clinical testing NM_019098.4(CNGB3):c.1619T>A(L540*) is expected to be pathogenic in the context of CNGB3-related achromatopsia. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in CNGB3, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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