ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.2788dup (p.Arg930fs)

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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 RCV003576471 SCV004329466 pathogenic not provided 2023-10-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg930Lysfs*9) in the FREM2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FREM2 are known to be pathogenic (PMID: 18203166, 26552811). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FREM2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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