ClinVar Miner

Submissions for variant NM_000843.4(GRM6):c.2066del (p.Pro689fs)

dbSNP: rs755967391
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783403 SCV002024921 likely pathogenic Congenital stationary night blindness 1B 2023-09-11 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV001783403 SCV002579845 likely pathogenic Congenital stationary night blindness 1B 2021-12-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541150 SCV003439302 pathogenic not provided 2022-07-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro689Leufs*24) 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). This variant is present in population databases (rs755967391, gnomAD 0.06%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1323039). This variant is also known as c.2062delC. This premature translational stop signal has been observed in individual(s) with congenital stationary night blindness (PMID: 22008250).

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