ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2555C>A (p.Ser852Ter)

dbSNP: rs761469030
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001246892 SCV001420284 pathogenic Fanconi anemia 2020-02-05 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). This variant has been observed in an individual affected with Fanconi anemia (PMID: 25239263). This sequence change creates a premature translational stop signal (p.Ser852*) in the FANCA gene. It is expected to result in an absent or disrupted protein product.
Revvity Omics, Revvity RCV001780186 SCV002022314 pathogenic Fanconi anemia complementation group A 2019-05-16 criteria provided, single submitter clinical testing
GeneDx RCV003117864 SCV003798818 pathogenic not provided 2022-08-05 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: 25239263)
Baylor Genetics RCV001780186 SCV005057563 pathogenic Fanconi anemia complementation group A 2024-02-09 criteria provided, single submitter clinical testing

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