ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.3628C>T (p.Gln1210Ter)

dbSNP: rs372276411
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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 RCV001994869 SCV002231274 pathogenic Fanconi anemia 2024-12-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1210*) 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 (rs372276411, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. ClinVar contains an entry for this variant (Variation ID: 1453681). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003442976 SCV004169370 likely pathogenic not provided 2023-05-08 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; Observed in individuals with breast cancer (Palmer et al., 2020); This variant is associated with the following publications: (PMID: 32427313)

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