ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) (rs1291524243)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668057 SCV000792601 likely pathogenic Fanconi anemia, complementation group A 2017-07-05 criteria provided, single submitter clinical testing
Invitae RCV000813603 SCV000953969 pathogenic Fanconi anemia 2018-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln286*) in the FANCA 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 been observed in combination with another FANCA variant in an individual affected with Fanconi anemia (PMID: 12697994). This variant has also been observed in the heterozygous state in another individual affected with Fanconi anemia, but the second variant was not identified (PMID: 10094191). ClinVar contains an entry for this variant (Variation ID: 552738). Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092317 SCV001248755 pathogenic not provided 2019-05-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001199189 SCV001370198 pathogenic Atrial septal defect; Absent radius; Absent thumb 2019-02-20 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP5. This variant was detected in heterozygous state.

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