ClinVar Miner

Submissions for variant NM_000843.4(GRM6):c.2213_2219del (p.Ala738fs)

dbSNP: rs770025079
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001857292 SCV002289291 pathogenic not provided 2023-09-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the GRM6 protein in which other variant(s) (p.Gly756Asp) have been determined to be pathogenic (PMID: 22008250, 24715752, 26628857). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 441099). This premature translational stop signal has been observed in individual(s) with night blindness (Invitae). This variant is present in population databases (rs770025079, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Ala738Glyfs*81) in the GRM6 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 140 amino acid(s) of the GRM6 protein.
GenomeConnect, ClinGen RCV000509084 SCV000607204 not provided Congenital stationary night blindness no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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