ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.883dup (p.Asp295fs)

dbSNP: rs1829092483
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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 RCV001863076 SCV002238365 pathogenic Fanconi anemia 2021-08-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp295Glyfs*14) 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). This variant is not present in population databases (ExAC no frequency). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 28024295). ClinVar contains an entry for this variant (Variation ID: 929688). For these reasons, this variant has been classified as Pathogenic.
Leiden Open Variation Database RCV001194953 SCV001364821 pathogenic Fanconi anemia complementation group G 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Daniela Pilonetto.

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