ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.466C>T (p.Gln156Ter)

dbSNP: rs1885521004
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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 RCV001954597 SCV002191349 pathogenic Fanconi anemia 2022-05-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln156*) 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 ovarian cancer (PMID: 28881617). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV004728940 SCV005338070 likely pathogenic FANCM-related disorder 2024-09-03 no assertion criteria provided clinical testing The FANCM c.466C>T variant is predicted to result in premature protein termination (p.Gln156*). This variant was reported in an individual with high grade serous ovarian cancer as well as in a control (Supplementary Table 6. Dicks et al. 2017. PubMed ID: 28881617). This variant has not been reported in gnomAD, indicating this variant is rare. This variant is classified as pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/1419135/). Nonsense variants in FANCM are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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