ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.128T>G (p.Leu43Ter)

dbSNP: rs1158456786
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001873582 SCV002229242 pathogenic Fanconi anemia 2021-11-19 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 915874). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 17924555, 33224012). This sequence change creates a premature translational stop signal (p.Leu43*) 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).
Istanbul Faculty of Medicine, Istanbul University RCV001255877 SCV001296382 likely pathogenic Fanconi anemia complementation group A 2020-03-17 no assertion criteria provided clinical testing Segregates in family

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