ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs)

gnomAD frequency: 0.00001  dbSNP: rs763733996
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001204226 SCV001375425 pathogenic Fanconi anemia 2023-12-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile360Trpfs*8) 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). This variant is present in population databases (rs763733996, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with head and neck carcinoma (PMID: 28678401). ClinVar contains an entry for this variant (Variation ID: 935595). For these reasons, this variant has been classified as Pathogenic.
Sema4, Sema4 RCV001204226 SCV002529445 likely pathogenic Fanconi anemia 2021-09-13 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002491613 SCV002799637 pathogenic Fanconi anemia complementation group D2 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV002561149 SCV003195022 likely pathogenic not provided 2023-01-19 criteria provided, single submitter clinical testing Frameshift 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 significant frequency in large population cohorts (gnomAD); Observed in individuals with a personal or family history including renal cancer and head and neck squamous cell carcinoma (Chandrasekharappa 2017, Huang 2018); This variant is associated with the following publications: (PMID: 28678401, 29625052)
Baylor Genetics RCV002491613 SCV004196747 pathogenic Fanconi anemia complementation group D2 2024-01-22 criteria provided, single submitter clinical testing

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