ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1432C>T (p.Arg478Ter)

dbSNP: rs552052505
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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 RCV001042509 SCV001206192 pathogenic Fanconi anemia 2024-04-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg478*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 29287190, 31991861). ClinVar contains an entry for this variant (Variation ID: 840503). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003117717 SCV003798683 likely pathogenic not provided 2022-08-04 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); This variant is associated with the following publications: (PMID: 29287190, 31991861, 30613976)

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