ClinVar Miner

Submissions for variant NM_201525.4(ADGRG1):c.206_209dup (p.Phe71fs)

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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 RCV002852157 SCV003223805 pathogenic not provided 2022-09-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe71Profs*14) in the ADGRG1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ADGRG1 are known to be pathogenic (PMID: 15044805, 20929962). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ADGRG1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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