ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.3453_3456del (p.Asn1151fs)

dbSNP: rs1559403654
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001194929 SCV002022346 pathogenic Fanconi anemia complementation group D2 2019-07-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV001194929 SCV004196740 pathogenic Fanconi anemia complementation group D2 2023-08-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003523080 SCV004323833 pathogenic Fanconi anemia 2024-01-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn1151Lysfs*46) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Fanconi anaemia (PMID: 17436244). ClinVar contains an entry for this variant (Variation ID: 929666). For these reasons, this variant has been classified as Pathogenic.
Leiden Open Variation Database RCV001194929 SCV001364794 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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