ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.3922C>T (p.Gln1308Ter)

dbSNP: rs148471911
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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 RCV001386981 SCV001587444 pathogenic Fanconi anemia 2023-03-14 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: 1073865). This variant has not been reported in the literature in individuals affected with FANCD2-related conditions. This variant is present in population databases (rs148471911, gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1308*) in the FANCD2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCD2 are known to be pathogenic (PMID: 17436244).
Baylor Genetics RCV004570965 SCV005057654 likely pathogenic Fanconi anemia complementation group D2 2023-11-22 criteria provided, single submitter clinical testing

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