ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.4637T>G (p.Leu1546Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003525073 SCV004343368 pathogenic Fanconi anemia 2024-09-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1546*) in the FANCM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCM are known to be pathogenic (PMID: 29895858, 30075111). This variant is present in population databases (rs755094018, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004999963 SCV005626318 likely pathogenic not provided 2024-09-24 criteria provided, single submitter clinical testing The FANCM c.4637T>G (p.Leu1546*) variant is predicted to cause the premature termination of FANCM protein synthesis. This variant has not been reported in individuals with FANCM-related conditions in the published literature. The frequency of this variant in the general population, 0.000091 (3/33070 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Based on the available information, this variant is classified as likely pathogenic.

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