ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.549G>A (p.Trp183Ter)

dbSNP: rs758528624
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669575 SCV000794342 pathogenic Fanconi anemia complementation group A 2017-09-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001584542 SCV001821300 pathogenic Fanconi anemia 2021-08-19 criteria provided, single submitter clinical testing Variant summary: FANCA c.549G>A (p.Trp183X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251424 control chromosomes (gnomAD). The variant (p.Trp183X) has been reported in the literature in individuals affected with Fanconi Anemia (De Rocco_2014). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One ClinVar submitter (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Baylor Genetics RCV000669575 SCV005057578 pathogenic Fanconi anemia complementation group A 2023-12-27 criteria provided, single submitter clinical testing

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