ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2316+2T>A

dbSNP: rs2139235421
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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 RCV002001234 SCV002269331 likely pathogenic Fanconi anemia 2021-08-12 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This sequence change affects a donor splice site in intron 13 of the FANCM gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in FANCM are known to be pathogenic (PMID: 29895858, 30075111). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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