ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) (rs780825099)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199923 SCV000253675 likely pathogenic Fanconi anemia 2019-02-15 criteria provided, single submitter clinical testing This sequence change replaces glutamine with proline at codon 869 of the FANCA protein (p.Gln869Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is present in population databases (rs780825099, ExAC 0.003%). This variant has been reported in individuals affected with Fanconi Anemia. Currently there is insufficient evidence to conclude whether this variant segregates with disease or not (PMID: 17924555, 15643609, Invitae). ClinVar contains an entry for this variant (Variation ID: 215981), Experimental studies have shown that this missense change causes reduced expression of FANCA protein in vitro, (PMID: 17924555) and may disrupt FANCA protein complex formation with FANCB and FANCL (PMID: 15643609). For these reasons, this variant has been classified as Likely Pathogenic.
Counsyl RCV000674142 SCV000799425 likely pathogenic Fanconi anemia, complementation group A 2018-04-17 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000674142 SCV000894102 likely pathogenic Fanconi anemia, complementation group A 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091062 SCV001246906 pathogenic not provided 2019-12-01 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000674142 SCV001425966 pathogenic Fanconi anemia, complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Johan de Winter.

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