ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1491dup (p.Gln498fs)

gnomAD frequency: 0.00005  dbSNP: rs797045116
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Individualized Medicine, Mayo Clinic RCV000190644 SCV000245687 likely pathogenic not provided 2014-01-01 criteria provided, single submitter research
Invitae RCV001206024 SCV001377311 pathogenic Fanconi anemia 2023-07-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln498Thrfs*7) in the FANCM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCM are known to be pathogenic (PMID: 29895858, 30075111). This variant is present in population databases (rs761250416, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with non-obstructive azoospermia and Sertoli cell-only syndrome and it has also been observed in several individuals affected with breast and/or ovarian cancer (PMID: 26296701, 28881617, 29351780, 30075111). ClinVar contains an entry for this variant (Variation ID: 208640). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000190644 SCV002104348 likely pathogenic not provided 2023-04-26 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed in multiple individuals with breast or ovarian cancer and may represent a founder variant in the Lithuanian population (Ellingson et al., 2015; Dicks et al., 2017; Nguyen-Dumont et al., 2018; Figlioli et al., 2020); This variant is associated with the following publications: (PMID: 26296701, 28881617, 29351780, 30075111, 31991861, 31589614, 29625052, 26689913, 34976027, 35929646, 29895858, 36835452)
OMIM RCV000677275 SCV000803408 pathogenic Spermatogenic failure 28 2018-08-13 no assertion criteria provided literature only

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