ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5047A>T (p.Lys1683Ter)

dbSNP: rs1213350464
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001566575 SCV001790117 likely pathogenic not provided 2024-02-21 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 (gnomAD); Observed in an individual with severe aplastic anemia (PMID: 35776903); This variant is associated with the following publications: (PMID: 35776903)
PreventionGenetics, part of Exact Sciences RCV004536195 SCV004710869 likely pathogenic FANCM-related disorder 2023-12-28 no assertion criteria provided clinical testing The FANCM c.5047A>T variant is predicted to result in premature protein termination (p.Lys1683*). This variant has been reported in an individual with Aplastic anemia (McReynolds et al. 2022. PubMed ID: 35776903. Table S2A). This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD. Nonsense variants in FANCM are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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