ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.385C>T (p.Arg129Ter)

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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 RCV003622070 SCV004529390 pathogenic Borjeson-Forssman-Lehmann syndrome 2024-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg129*) in the PHF6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PHF6 are known to be pathogenic (PMID: 12415272, 24092917, 25099957, 26648834). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PHF6-related conditions. For these reasons, this variant has been classified as Pathogenic.

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