ClinVar Miner

Submissions for variant NM_000843.4(GRM6):c.3G>T (p.Met1Ile)

gnomAD frequency: 0.00004  dbSNP: rs942517034
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001913905 SCV002178130 pathogenic not provided 2024-11-20 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the GRM6 mRNA. The next in-frame methionine is located at codon 72. This variant is present in population databases (no rsID available, gnomAD 0.007%). Disruption of the initiator codon has been observed in individual(s) with clinical features of congenital stationary night blindness (PMID: 25307992). ClinVar contains an entry for this variant (Variation ID: 1409749). This variant disrupts a region of the GRM6 protein in which other variant(s) (p.Gly58Arg) have been determined to be pathogenic (PMID: 16249515, 22959359). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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