ClinVar Miner

Submissions for variant NM_000843.4(GRM6):c.2240C>T (p.Ser747Leu)

gnomAD frequency: 0.00003  dbSNP: rs759761288
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001230580 SCV001403064 uncertain significance not provided 2022-10-18 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 747 of the GRM6 protein (p.Ser747Leu). This variant is present in population databases (rs759761288, gnomAD 0.05%). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 26667666). ClinVar contains an entry for this variant (Variation ID: 957582). 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 not expected to disrupt GRM6 protein function. 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.
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376420 SCV001573549 uncertain significance Congenital stationary night blindness 1B 2021-04-08 criteria provided, single submitter research The GRM6 c.2240C>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PP3. Based on this evidence we have classified this variant as Variant of Uncertain Significance.

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