ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1591C>T (p.Gln531Ter)

dbSNP: rs1447482674
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547908 SCV000626352 pathogenic Fanconi anemia 2019-03-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln531*) in the FANCM gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FANCM are known to be pathogenic (PMID: 29895858, 30075111). This variant has not been reported in the literature in individuals with FANCM-related conditions. ClinVar contains an entry for this variant (Variation ID: 456252).

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