ClinVar Miner

Submissions for variant NM_004629.1(FANCG):c.161dup (p.His55fs) (rs886063898)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000363591 SCV000479850 uncertain significance Fanconi anemia, complementation group G 2017-04-27 criteria provided, single submitter clinical testing The FANCG c.161dupT (p.His55ProfsTer2) variant results in a frameshift and is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, or the Exome Aggregation Consortium. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of frameshift variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for Fanconi anemia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Invitae RCV000814219 SCV000954620 pathogenic Fanconi anemia 2018-12-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His55Profs*2) in the FANCG gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FANCG-related conditions. ClinVar contains an entry for this variant (Variation ID: 366737). Loss-of-function variants in FANCG are known to be pathogenic (PMID: 12552564). For these reasons, this variant has been classified as Pathogenic.

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