ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter)

dbSNP: rs1452688134
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000799851 SCV000939533 pathogenic Fanconi anemia 2023-01-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr86*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with FANCA-related conditions (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 645709). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV001256218 SCV001442399 likely pathogenic Fanconi anemia complementation group A 2019-04-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV001256218 SCV004196063 pathogenic Fanconi anemia complementation group A 2023-08-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001256218 SCV005639572 likely pathogenic Fanconi anemia complementation group A 2024-06-14 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001256218 SCV001425621 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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