ClinVar Miner

Submissions for variant NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter) (rs62638214)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000086036 SCV000890304 pathogenic not provided 2018-12-24 criteria provided, single submitter clinical testing The R621X variant in the GRM6 gene has been reported previously in the homozygous state in an individual with congenital stationary night blindness (Dryja et al., 2005). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R621X variant is observed in 44/276352 (0.016%) global alleles in large population cohorts, and no individuals were reported to be homozygous (Lek et al., 2016). We interpret R621X as a pathogenic variant.
Blueprint Genetics RCV001074243 SCV001239816 pathogenic Retinal dystrophy 2019-04-29 criteria provided, single submitter clinical testing
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000006197 SCV001437088 pathogenic Congenital stationary night blindness, type 1B criteria provided, single submitter clinical testing 20A1176
OMIM RCV000006197 SCV000026379 pathogenic Congenital stationary night blindness, type 1B 2005-03-29 no assertion criteria provided literature only
Retina International RCV000086036 SCV000118179 not provided not provided no assertion provided not provided
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787608 SCV000926592 pathogenic Leber congenital amaurosis 2018-04-01 no assertion criteria provided research

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