ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.1672G>T (p.Gly558Cys) (rs749413012)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670529 SCV000795391 uncertain significance Achromatopsia 3 2017-11-14 criteria provided, single submitter clinical testing
Invitae RCV001058379 SCV001222945 uncertain significance not provided 2019-12-11 criteria provided, single submitter clinical testing This sequence change replaces glycine with cysteine at codon 558 of the CNGB3 protein (p.Gly558Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine. This variant is present in population databases (rs749413012, ExAC 0.02%). This variant has been observed in individual(s) with achromatopsia or retinitis pigmentosa (PMID: 15712225). ClinVar contains an entry for this variant (Variation ID: 554831). This variant has been reported to affect CNGB3 protein function (PMID: 26106334). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Human Genetics - Radboudumc,Radboudumc RCV000678547 SCV000804625 uncertain significance Retinitis pigmentosa 2016-09-01 no assertion criteria provided clinical testing

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