ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.958C>T (p.Gln320Ter)

dbSNP: rs121917788
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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 RCV000012821 SCV002023021 pathogenic Fanconi anemia complementation group D2 2019-06-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003522920 SCV004286250 pathogenic Fanconi anemia 2024-01-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln320*) 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 anemia (PMID: 11239453). ClinVar contains an entry for this variant (Variation ID: 12041). 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.
OMIM RCV000012821 SCV000033061 pathogenic Fanconi anemia complementation group D2 2001-02-01 no assertion criteria provided literature only
Leiden Open Variation Database RCV000012821 SCV001364773 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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