ClinVar Miner

Submissions for variant NM_001079878.2(CNGA3):c.1252C>T (p.Arg418Trp) (rs104893621)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Ophthalmic Research,University Tuebingen RCV000591222 SCV000700224 pathogenic Achromatopsia 2018-03-20 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000591222 SCV000712807 pathogenic Achromatopsia 2017-03-28 criteria provided, single submitter clinical testing The p.Arg436Trp (NM001298.2 c.1306C>T) variant in CNGA3 has been reported in at least 2 homozygous and 10 compound heterozygous individuals with clinical diagno sis of achromatopsia or cone-rod dystrophy (Li 2014, Wissinger 2001, Johnson 200 4, Goto-Omoto 2006, Saqib 2015, Huang 2016, Nishiguchi 2005, Zelinger 2015, and Genead 2011), and segregated in 3 affected homozygous family members in one fami ly (Saqib 2015). This variant has also been identified in 0.036% (6/16,458) of S outh Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs104893621). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessi ve carrier frequency. In summary, this variant meets criteria to be classified a s pathogenic for CNGA3-related achromatopsia/ cone-rod dystrophy in an autosomal recessive manner based upon its biallelic occurrence in affected individuals an d low frequency in control populations.
OMIM RCV000010090 SCV000030311 pathogenic Achromatopsia 2 2001-10-01 no assertion criteria provided literature only

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