ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1143+5G>C

dbSNP: rs778328620
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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 RCV001296885 SCV001485862 uncertain significance Fanconi anemia 2022-05-07 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the FANCG gene. It does not directly change the encoded amino acid sequence of the FANCG protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. This variant is present in population databases (rs778328620, gnomAD 0.0009%). This variant has been observed in individual(s) with Fanconi anemia (PMID: 28024295). ClinVar contains an entry for this variant (Variation ID: 929691). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of exon 9 and introduces a premature termination codon (PMID: 28024295). The resulting mRNA is expected to undergo nonsense-mediated decay. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Leiden Open Variation Database RCV001194957 SCV001364828 pathogenic not provided 2016-04-16 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Avani P. Solanki.

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