ClinVar Miner

Submissions for variant NM_003835.4(RGS9):c.895T>C (p.Trp299Arg) (rs121908449)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052039 SCV001216229 pathogenic not provided 2019-12-23 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with arginine at codon 299 of the RGS9 protein (p.Trp299Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. This variant is present in population databases (rs121908449, ExAC 0.02%). This variant has been observed to segregate with bradyopsia in a family and is present in other individuals affected with bradyopsia or cone dysfunction (PMID: 17826834, 14702087, 19818506). ClinVar contains an entry for this variant (Variation ID: 5862). This variant has been reported to affect RGS9 protein function (PMID: 14702087). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000006220 SCV000026402 pathogenic Bradyopsia 2004-01-01 no assertion criteria provided literature only
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787876 SCV000926892 pathogenic Leber congenital amaurosis 2018-04-01 no assertion criteria provided research

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