ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1715G>A (p.Trp572Ter)

dbSNP: rs1829041127
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002561027 SCV003521603 pathogenic Fanconi anemia 2022-06-13 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 929705). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 11093276, 24584348). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp572*) in the FANCG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCG are known to be pathogenic (PMID: 12552564).
Baylor Genetics RCV001194973 SCV004199170 likely pathogenic Fanconi anemia complementation group G 2022-09-19 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001194973 SCV001364847 pathogenic Fanconi anemia complementation group G 2011-02-07 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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