ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro) (rs1173704265)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671953 SCV000797000 likely pathogenic Fanconi anemia, complementation group A 2018-01-08 criteria provided, single submitter clinical testing
Invitae RCV001047569 SCV001211534 pathogenic Fanconi anemia 2019-12-20 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 845 of the FANCA protein (p.Leu845Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another FANCA variant in individuals affected with Fanconi anemia (PMID: 12031647, 19367192, 22778927, 29098742). ClinVar contains an entry for this variant (Variation ID: 556016). This variant has been reported to affect FANCA protein function (PMID: 12444097). For these reasons, this variant has been classified as Pathogenic.
Leiden Open Variation Database RCV000671953 SCV001425826 pathogenic Fanconi anemia, complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Johan de Winter.

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