ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.4318-1G>A

gnomAD frequency: 0.00008  dbSNP: rs752228025
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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 RCV001233917 SCV001406532 likely pathogenic Fanconi anemia 2023-11-26 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 15 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 present in population databases (rs752228025, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. ClinVar contains an entry for this variant (Variation ID: 960400). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
GeneDx RCV001773527 SCV002001944 uncertain significance not provided 2024-09-11 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in an in-frame loss of the adjacent exon in a gene for which loss of function is a known mechanism of disease; Observed in an individual with a personal history of breast cancer (PMID: 35710434); This variant is associated with the following publications: (PMID: 35710434)

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