ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.4222+5G>A

gnomAD frequency: 0.00004  dbSNP: rs201544504
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534526 SCV000626371 uncertain significance Fanconi anemia 2023-12-14 criteria provided, single submitter clinical testing This sequence change falls in intron 14 of the FANCM gene. It does not directly change the encoded amino acid sequence of the FANCM protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs201544504, gnomAD 0.006%). 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: 456268). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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 available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001557384 SCV001779137 uncertain significance not provided 2023-07-31 criteria provided, single submitter clinical testing Observed in an individual with cancer suspected to have a hereditary cancer syndrome (Del Valle et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; This variant is associated with the following publications: (PMID: 32235514)
Fulgent Genetics, Fulgent Genetics RCV002476096 SCV002786196 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2021-10-04 criteria provided, single submitter clinical testing

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