ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1972C>T (p.Arg658Ter) (rs368728266)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513240 SCV000608699 uncertain significance not provided 2017-10-31 criteria provided, single submitter clinical testing
Invitae RCV000705743 SCV000834756 uncertain significance Fanconi anemia 2018-12-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg658*) in the FANCM gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs368728266, ExAC 0.01%). This variant has been observed in individuals with breast cancer, ovarian cancer, and polycythemia vera (PMID: 21681190, 26822949, 29287190, 28033443, 28881617). It has also been observed to be homozygous in an individual with metastatic melanoma and positive DEB chromosomal breakage assay (PMID: 28837162). ClinVar contains an entry for this variant (Variation ID: 444327). The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in FANCM cause disease. 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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