ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.4122_4123CA[1] (p.Thr1375fs) (rs776969626)

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Total submissions: 4
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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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731876 SCV000859739 pathogenic not provided 2018-02-19 criteria provided, single submitter clinical testing
Invitae RCV001218261 SCV001390135 pathogenic Fanconi anemia 2019-05-07 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the FANCA gene (p.Thr1375Serfs*49). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 81 amino acids of the FANCA protein. This variant is present in population databases (rs776969626, ExAC 0.002%). This variant has been observed in several individuals affected with Fanconi anemia (PMID: 21273304, 27041517, 23934222). 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: 21273304, 24584348, 28102861, 29098742, 15643609, 28717661). 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.
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.

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