ClinVar Miner

Submissions for variant NM_001004334.4(GPR179):c.278del (p.Pro93fs)

dbSNP: rs794726685
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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 RCV003556084 SCV004297759 pathogenic not provided 2023-12-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro93Glnfs*57) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with congenital stationary night blindness (PMID: 22325361). ClinVar contains an entry for this variant (Variation ID: 31201). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000024200 SCV000045491 pathogenic Congenital stationary night blindness 1E 2012-02-10 no assertion criteria provided literature only

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