ClinVar Miner

Submissions for variant NM_001004334.4(GPR179):c.1727del (p.Tyr576fs)

dbSNP: rs1567725425
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761283 SCV000891243 likely pathogenic Congenital stationary night blindness 1E 2017-07-27 criteria provided, single submitter clinical testing
Invitae RCV001869039 SCV002227835 pathogenic not provided 2021-07-31 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: 623175). This variant has not been reported in the literature in individuals affected with GPR179-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr576Serfs*50) in the GPR179 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GPR179 are known to be pathogenic (PMID: 22325361, 22325362).

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