ClinVar Miner

Submissions for variant NM_014989.5(RIMS1):c.2459G>A (p.Arg820His) (rs121918302)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074043 SCV001239611 uncertain significance Retinal dystrophy 2018-11-13 criteria provided, single submitter clinical testing
Invitae RCV001386853 SCV001587230 pathogenic not provided 2020-06-02 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 820 of the RIMS1 protein (p.Arg820His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs121918302, ExAC 0.02%). This variant has been observed in individual(s) with cone-rod dystrophy and retinitis pigmentosa (PMID: 12659814, 27176872). It has also been observed to segregate with disease in related individuals. This variant is also known as p.Arg844His in the literature. ClinVar contains an entry for this variant (Variation ID: 4168). This variant has been reported to affect RIMS1 protein function (PMID: 18690027). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000004385 SCV000024557 pathogenic Cone-rod dystrophy 7 2003-03-01 no assertion criteria provided literature only

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