ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.4477del (p.Arg1493fs)

dbSNP: rs1889219103
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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 RCV001205878 SCV001377158 pathogenic Fanconi anemia 2020-04-27 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg1493Glufs*12) in the FANCM gene. It is expected to result in an absent or disrupted protein product.
Baylor Genetics RCV003462691 SCV004197291 likely pathogenic Premature ovarian failure 15 2023-09-05 criteria provided, single submitter clinical testing

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