ClinVar Miner

Submissions for variant NM_000087.4(CNGA1):c.191del (p.Gly64fs) (rs527236058)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490404 SCV000267259 pathogenic Retinitis pigmentosa 49 2016-03-18 criteria provided, single submitter reference population
GeneDx RCV001008797 SCV001168595 pathogenic not provided 2018-07-19 criteria provided, single submitter clinical testing The c.191delG variant in the CNGA1 gene has been reported previously in the homozygous state in at least two individuals with retinitis pigmentosa (Katagiri et al., 2014). This variant causes a frameshift starting with codon Glycine 64, changes this amino acid to a Valine residue, and creates a premature Stop codon at position 29 of the new reading frame, denoted p.Gly64ValfsX29. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.191delG variant is observed in 5/17244 (0.029%) alleles from individuals of East Asian background in large population cohorts, with no homozygotes reported (Lek et al., 2016). We interpret c.191delG as a pathogenic variant.
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132620 SCV000172571 probable-pathogenic Retinitis pigmentosa no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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