ClinVar Miner

Submissions for variant NM_018062.3(FANCL):c.2T>C (p.Met1Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686799 SCV000814334 uncertain significance Fanconi anemia 2018-06-05 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the FANCL mRNA. The next in-frame methionine is located at codon 74. This variant is present in population databases (rs761291501, ExAC 0.009%). This variant has not been reported in the literature in individuals with FANCL-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted initiator codon and the role of downstream in-frame methionine is currently unknown. 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.

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