ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.1A>G (p.Met1Val)

gnomAD frequency: 0.00001  dbSNP: rs781249928
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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 RCV001322941 SCV001513836 uncertain significance Fanconi anemia 2021-08-27 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the FANCI mRNA. The next in-frame methionine is located at codon 94. This variant is present in population databases (rs781249928, ExAC 0.001%). Disruption of the initiator codon has been observed in individual(s) with Fanconi anemia (PMID: 17452773). 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.
Fulgent Genetics, Fulgent Genetics RCV002499629 SCV002816786 uncertain significance Fanconi anemia complementation group I 2021-09-16 criteria provided, single submitter clinical testing

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