ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.1114C>T (p.Pro372Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001060342 SCV001225023 pathogenic not provided 2019-12-29 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 372 of the CNGA3 protein (p.Pro372Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals and a family affected with achromatopsia (PMID: 11536077, 20506298, 29053603, 28559085). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.1060C>T (p.P354S) in the literature. This variant has been reported to affect CNGA3 protein function (PMID: 17693388, 20506298). For these reasons, this variant has been classified as Pathogenic.
Sharon lab,Hadassah-Hebrew University Medical Center RCV001002966 SCV001161013 pathogenic Achromatopsia 2019-06-23 no assertion criteria provided research

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