ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter)

gnomAD frequency: 0.00001  dbSNP: rs745568821
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674491 SCV000799837 pathogenic Fanconi anemia complementation group A 2018-05-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000817200 SCV000957749 pathogenic Fanconi anemia 2023-07-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser947*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 558253). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 9371798, 12955722, 24584348, 29098742). This variant is present in population databases (rs745568821, gnomAD 0.003%).
Fulgent Genetics, Fulgent Genetics RCV000674491 SCV002789782 pathogenic Fanconi anemia complementation group A 2021-10-27 criteria provided, single submitter clinical testing
GeneDx RCV003163071 SCV003915220 pathogenic not provided 2022-10-07 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: 29098742, 30792206, 9371798, 33088445, 12955722)
Baylor Genetics RCV000674491 SCV004196074 pathogenic Fanconi anemia complementation group A 2024-03-30 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000674491 SCV001425695 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Sue Richards.

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