ClinVar Miner

Submissions for variant NM_001004334.4(GPR179):c.1250del (p.Val417fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003005262 SCV003301288 pathogenic not provided 2022-08-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with GPR179-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val417Alafs*69) 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). For these reasons, this variant has been classified as Pathogenic.

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