ClinVar Miner

Submissions for variant NM_001004334.4(GPR179):c.3460C>T (p.Gln1154Ter)

dbSNP: rs757044884
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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 RCV002000308 SCV002267004 uncertain significance not provided 2021-04-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1154*) in the GPR179 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1214 amino acid(s) of the GPR179 protein. This variant is present in population databases (rs757044884, ExAC 0.002%). This variant has not been reported in the literature in individuals with GPR179-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002492224 SCV002792472 uncertain significance Congenital stationary night blindness 1E 2022-02-25 criteria provided, single submitter clinical testing

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