ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.1304C>T (p.Ser435Phe) (rs121918344)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001243215 SCV001416356 pathogenic not provided 2019-10-23 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 435 of the CNGB3 protein (p.Ser435Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals and families with achromatopsia and is a frequent cause of achromatopsia amongst the Pingelapese people of the Eastern Caroline Islands in Micronesia (PMID: 10888875, 15657609, 10958649). This variant is also known as Ser322Phe in the literature. ClinVar contains an entry for this variant (Variation ID: 5222). This variant has been reported to affect CNGB3 protein function (PMID: 12815043, 15223812). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000005532 SCV000025714 pathogenic Achromatopsia 3 2000-09-01 no assertion criteria provided literature only
GeneReviews RCV000005532 SCV000086983 pathologic Achromatopsia 3 2013-06-27 no assertion criteria provided curation Converted during submission to Pathogenic.
Molecular Genetics Laboratory,Institute for Ophthalmic Research RCV000005532 SCV000575810 pathogenic Achromatopsia 3 2017-03-27 no assertion criteria provided research

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