ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1615del (p.Asp539fs)

dbSNP: rs778507965
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001046987 SCV001210914 pathogenic Fanconi anemia 2023-12-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp539Thrfs*66) 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 present in population databases (rs778507965, gnomAD 0.008%). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 9371798, 10094191). ClinVar contains an entry for this variant (Variation ID: 3443). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000003612 SCV003821948 pathogenic Fanconi anemia complementation group A 2022-04-25 criteria provided, single submitter clinical testing
GeneDx RCV003228892 SCV003925998 pathogenic not provided 2022-11-21 criteria provided, single submitter clinical testing Frameshift 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; This variant is associated with the following publications: (PMID: 9371798, 34153142, 26701949, Aslan2022[Article], 10094191)
Baylor Genetics RCV000003612 SCV004195984 pathogenic Fanconi anemia complementation group A 2023-10-30 criteria provided, single submitter clinical testing
OMIM RCV000003612 SCV000023770 pathogenic Fanconi anemia complementation group A 1999-08-01 no assertion criteria provided literature only
Leiden Open Variation Database RCV000003612 SCV001426063 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.
Natera, Inc. RCV001046987 SCV002095025 pathogenic Fanconi anemia 2021-03-11 no assertion criteria provided clinical testing

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