ClinVar Miner

Submissions for variant NM_000843.4(GRM6):c.137C>T (p.Pro46Leu) (rs62638197)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000086025 SCV000582705 likely pathogenic not provided 2017-12-05 criteria provided, single submitter clinical testing The P46L variant in the GRM6 gene has been reported previously in trans with another GRM6 variant in an individual with congenital stationary night blindness (Zeitz et al., 2005). The P46L variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The P46L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Functional studies of the P46L variant demonstrated a transport defect with intracellular retention of the receptor (Zeitz et al., 2007; Beqollari et al., 2009). We interpret P46L as a likely pathogenic variant.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504939 SCV000598707 likely pathogenic Congenital stationary night blindness 2015-01-01 no assertion criteria provided research
OMIM RCV000006201 SCV000026383 pathogenic Congenital stationary night blindness, type 1B 2005-11-01 no assertion criteria provided literature only
Retina International RCV000086025 SCV000118168 not provided not provided no assertion provided not provided

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