ClinVar Miner

Submissions for variant NM_000843.4(GRM6):c.1336C>T (p.Arg446Ter)

dbSNP: rs764476239
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001385681 SCV001585627 pathogenic not provided 2023-03-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1072852). This premature translational stop signal has been observed in individual(s) with congenital stationary night blindness (PMID: 25307992, 26628857). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs764476239, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Arg446*) in the GRM6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GRM6 are known to be pathogenic (PMID: 15781871, 16622103, 22008250).
3billion RCV001810046 SCV002058188 pathogenic Congenital stationary night blindness 1B 2022-01-03 criteria provided, single submitter clinical testing Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS).The variant has been reported to be associated with GRM6 related disorder (ClinVar ID: VCV001072852, PMID:25307992).It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000016, PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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