ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1142_1144delinsTTT (p.Thr381_Gln382delinsIleTer)

dbSNP: rs2040092520
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001222888 SCV001395010 pathogenic Fanconi anemia 2019-09-03 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). This variant has not been reported in the literature in individuals with FANCA-related conditions. This sequence change creates a premature translational stop signal (p.Thr381_Gln382delinsIle*) in the FANCA gene. It is expected to result in an absent or disrupted protein product.

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