ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.2404C>T (p.Gln802Ter)

dbSNP: rs1374735618
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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 RCV003523079 SCV004292202 pathogenic Fanconi anemia 2023-03-18 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 929661). This premature translational stop signal has been observed in individual(s) with clinical features of Fanconi anemia (PMID: 17436244). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Gln802*) 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).
Leiden Open Variation Database RCV001194922 SCV001364787 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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