ClinVar Miner

Submissions for variant NM_000843.4(GRM6):c.1214T>C (p.Ile405Thr) (rs121434304)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000439410 SCV000231579 likely pathogenic not provided 2017-06-13 criteria provided, single submitter clinical testing
GeneDx RCV000439410 SCV000521174 likely pathogenic not provided 2017-01-26 criteria provided, single submitter clinical testing The I405T variant in the GRM6 gene has been reported previously in association with autosomal recessive congenital stationary night blindness when present in the homozygous state (Zeitz et al., 2007). The I405T variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The I405T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In addition, this substitution occurs at a position that is conserved across species. Functional studies of the I405T variant demonstrate a transport defect of the GRM6 protein (Zeitz et al., 2007). The I405T variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
OMIM RCV000006204 SCV000026386 pathogenic Congenital stationary night blindness, type 1B 2007-08-01 no assertion criteria provided literature only

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