ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3763G>T (p.Glu1255Ter)

dbSNP: rs2062169243
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001939484 SCV002235583 pathogenic Fanconi anemia 2021-10-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This premature translational stop signal has been observed in individual(s) with FANCA-related conditions (PMID: 31586946). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu1255*) 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).
GeneDx RCV003107917 SCV003761668 pathogenic not provided 2022-07-24 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31586946, 33718801)

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