ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs)

dbSNP: rs776969626
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667783 SCV000792287 pathogenic Fanconi anemia complementation group A 2017-06-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731876 SCV000859739 pathogenic not provided 2018-02-19 criteria provided, single submitter clinical testing
Invitae RCV001218261 SCV001390135 pathogenic Fanconi anemia 2023-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr1375Serfs*49) in the FANCA gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 81 amino acid(s) of the FANCA protein. This variant is present in population databases (rs776969626, gnomAD 0.006%). This premature translational stop signal has been observed in individuals with Fanconi anemia (PMID: 21273304, 23934222, 27041517). ClinVar contains an entry for this variant (Variation ID: 552509). This variant disrupts the p.Arg1400 amino acid residue in FANCA. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 15643609, 21273304, 24584348, 28102861, 28717661, 29098742). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000731876 SCV003919630 likely pathogenic not provided 2022-10-24 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 81 amino acids are replaced with 48 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; This variant is associated with the following publications: (PMID: 31589614, 24037726, 30792206, 28717661, 27041517, 21273304, 23934222, 26366677)
Baylor Genetics RCV000667783 SCV004196048 pathogenic Fanconi anemia complementation group A 2023-08-26 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000667783 SCV001425864 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Daniela Pilonetto.
Natera, Inc. RCV001218261 SCV002092472 pathogenic Fanconi anemia 2020-02-07 no assertion criteria provided clinical testing

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