ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs1291524243
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Total submissions: 10
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV000813603 SCV000953969 pathogenic Fanconi anemia 2024-09-16 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. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 10094191, 12697994). ClinVar contains an entry for this variant (Variation ID: 552738). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV001092317 SCV001248755 pathogenic not provided 2024-09-01 criteria provided, single submitter clinical testing FANCA: PVS1, PM2, PM3
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000668057 SCV001370198 pathogenic Fanconi anemia complementation group A 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001092317 SCV002010162 pathogenic not provided 2021-11-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000668057 SCV002024571 likely pathogenic Fanconi anemia complementation group A 2019-04-26 criteria provided, single submitter clinical testing
Baylor Genetics RCV000668057 SCV004196624 likely pathogenic Fanconi anemia complementation group A 2022-06-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000668057 SCV005639510 likely pathogenic Fanconi anemia complementation group A 2024-05-20 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000668057 SCV001425911 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.
PreventionGenetics, part of Exact Sciences RCV004742563 SCV005343157 pathogenic FANCA-related disorder 2024-03-12 no assertion criteria provided clinical testing The FANCA c.856C>T variant is predicted to result in premature protein termination (p.Gln286*). This variant was reported in an individual with Fanconi anemia (Wijker et al 1999. PubMed ID: 10094191). This variant has not been reported in a large population database, indicating this variant is rare. Nonsense variants in FANCA are expected to be pathogenic. This variant is interpreted as pathogenic.

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