ClinVar Miner

Submissions for variant NM_001130009.3(GEN1):c.175del (p.Arg59fs)

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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 RCV003717312 SCV004511011 uncertain significance not provided 2023-06-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg59Valfs*5) in the GEN1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in GEN1 cause disease. This variant is present in population databases (rs762625410, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with GEN1-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.

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