ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) (rs752160950)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630944 SCV000751919 pathogenic Fanconi anemia 2018-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg853*) in the FANCA gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs752160950, ExAC 0.01%). This variant has been reported in one individual affected with Fanconi anemia (PMID: 16084127). In addition, this variant has been observed on the opposite chromosome (in trans) from another pathogenic FANCA variant in two siblings affected with Fanconi anemia (PMID: 19423727). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 192384). An experimental study has shown that lymphoblasts harboring this nonsense change and another pathogenic FANCA variant are defective in FANCD2 monoubiquitination (PMID: 19423727). Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000173013 SCV000795425 likely pathogenic Fanconi anemia, complementation group A 2017-11-22 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000173013 SCV000894103 pathogenic Fanconi anemia, complementation group A 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000173013 SCV000224032 pathogenic Fanconi anemia, complementation group A 2009-07-02 no assertion criteria provided literature only

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