ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3302_3308del (p.Ile1101fs)

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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 RCV002847393 SCV003227389 pathogenic Fanconi anemia 2022-08-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FANCA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile1101Thrfs*14) 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). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV004744458 SCV005341815 likely pathogenic FANCA-related disorder 2024-04-18 no assertion criteria provided clinical testing The FANCA c.3302_3308del7 variant is predicted to result in a frameshift and premature protein termination (p.Ile1101Thrfs*14). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Frameshift variants in FANCA are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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