ClinVar Miner

Submissions for variant NM_022773.4(LMF1):c.264_265del (p.Arg88fs)

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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 RCV005158612 SCV005787163 pathogenic not provided 2024-05-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg88Serfs*75) in the LMF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LMF1 are known to be pathogenic (PMID: 17994020, 19820022, 22239554). This variant is present in population databases (rs774545767, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with LMF1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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