ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.4270C>T (p.Arg1424Ter)

gnomAD frequency: 0.00003  dbSNP: rs751954386
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001380939 SCV001579165 pathogenic Fanconi anemia 2022-08-08 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: 1069183). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is present in population databases (rs751954386, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Arg1424*) 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 RCV001564781 SCV001787995 likely pathogenic not provided 2023-05-18 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 significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001564781 SCV005626308 pathogenic not provided 2024-09-07 criteria provided, single submitter clinical testing The FANCM c.4270C>T (p.Arg1424*) variant causes the premature termination of FANCM protein synthesis. This variant has been reported in the published literature in individuals with breast cancer (PMID: 37444426 (2023), 33471991 (2021), see also LOVD (http://databases.lovd.nl/shared)). This variant has also been observed in a reportedly healthy individual (PMID: 33471991 (2021), see also LOVD (http://databases.lovd.nl/shared)). The frequency of this variant in the general population, 0.000035 (4/113276 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Based on the available information, this variant is classified as pathogenic.

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