ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2014+1G>C

dbSNP: rs1598116164
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000853504 SCV000996437 likely pathogenic Fanconi anemia complementation group A 2019-07-16 criteria provided, single submitter clinical testing
Invitae RCV001241985 SCV001415043 likely pathogenic Fanconi anemia 2023-07-19 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 692160). Disruption of this splice site has been observed in individual(s) with Fanconi anemia (PMID: 19367192). This sequence change affects a donor splice site in intron 22 of the FANCA 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 FANCA are known to be pathogenic (PMID: 19367192).
GeneDx RCV003148887 SCV003837340 likely pathogenic not provided 2022-08-29 criteria provided, single submitter clinical testing Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 19367192)
Leiden Open Variation Database RCV000853504 SCV001425943 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Sue Richards.

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