ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1A>G (p.Met1Val)

dbSNP: rs752141076
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001936271 SCV002201231 uncertain significance Fanconi anemia 2021-02-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with FANCM-related conditions. This sequence change affects the initiator methionine of the FANCM mRNA. The next in-frame methionine is located at codon 125. This variant is present in population databases (rs752141076, ExAC 0.002%). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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