ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.3803G>A (p.Trp1268Ter)

dbSNP: rs757499508
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002255624 SCV002529521 pathogenic Fanconi anemia 2022-01-06 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV002255624 SCV003258468 pathogenic Fanconi anemia 2023-07-30 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individuals with Fanconi anemia (PMID: 17436244). This variant is present in population databases (rs757499508, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Trp1268*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 929670).
Baylor Genetics RCV001194933 SCV004196733 pathogenic Fanconi anemia complementation group D2 2024-01-17 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001194933 SCV001364799 pathogenic Fanconi anemia complementation group D2 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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