ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.4261-19_4261-12del

dbSNP: rs1567591276
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002570434 SCV003491524 uncertain significance Fanconi anemia 2022-07-06 criteria provided, single submitter clinical testing This sequence change falls in intron 42 of the FANCA gene. It does not directly change the encoded amino acid sequence of the FANCA protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with Fanconi anemia (PMID: 15643609). ClinVar contains an entry for this variant (Variation ID: 974173). 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.
Baylor Genetics RCV001256423 SCV004196090 pathogenic Fanconi anemia complementation group A 2023-06-22 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001256423 SCV001425874 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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