ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1879C>T (p.Arg627Ter)

gnomAD frequency: 0.00001  dbSNP: rs374626826
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001070935 SCV001236215 pathogenic Fanconi anemia 2023-08-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 863867). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is present in population databases (rs374626826, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Arg627*) 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).
GeneDx RCV001593251 SCV001825445 likely pathogenic not provided 2020-12-11 criteria provided, single submitter clinical testing Nonsense 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; Not observed at a significant frequency in large population cohorts (Lek 2016); Has not been previously published as pathogenic or benign to our knowledge
Preventiongenetics, part of Exact Sciences RCV003396727 SCV004110924 likely pathogenic FANCM-related condition 2023-03-23 criteria provided, single submitter clinical testing The FANCM c.1879C>T variant is predicted to result in premature protein termination (p.Arg627*). To our knowledge, this variant has not been reported in the literature in a patient with a FANCM related disorder. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/14-45636243-C-T) and is listed in ClinVar as likely pathogenic and pathogenic (https://www.ncbi.nlm.nih.gov/clinvar/variation/863867/). Nonsense variants in FANCM are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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