ClinVar Miner

Submissions for variant NM_000843.4(GRM6):c.2341G>A (p.Glu781Lys)

gnomAD frequency: 0.00037  dbSNP: rs62638625
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000086047 SCV001205164 uncertain significance not provided 2023-08-24 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies have shown that this missense change affects GRM6 function (PMID: 17405131, 19666700). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GRM6 protein function. ClinVar contains an entry for this variant (Variation ID: 5841). This missense change has been observed in individual(s) with congenital night blindness (PMID: 15781871). This variant is present in population databases (rs62638625, gnomAD 0.04%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 781 of the GRM6 protein (p.Glu781Lys).
OMIM RCV000006198 SCV000026380 pathogenic Congenital stationary night blindness 1B 2005-03-29 no assertion criteria provided literature only
Retina International RCV000086047 SCV000118191 not provided not provided no assertion provided not provided

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