ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.511C>T (p.Gln171Ter)

gnomAD frequency: 0.00001  dbSNP: rs771312042
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001912597 SCV002169925 pathogenic Fanconi anemia 2023-06-02 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FANCI-related conditions. This variant is present in population databases (rs771312042, gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 1397747). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gln171*) in the FANCI gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCI are known to be pathogenic (PMID: 17452773, 17460694).
PreventionGenetics, part of Exact Sciences RCV003401850 SCV004118886 likely pathogenic FANCI-related disorder 2023-06-23 criteria provided, single submitter clinical testing The FANCI c.511C>T variant is predicted to result in premature protein termination (p.Gln171*). To our knowledge, this variant has not been reported in the literature. This variant is reported in a single heterozygous individual of unknown descent in gnomAD (http://gnomad.broadinstitute.org/variant/15-89806657-C-T). Nonsense variants in FANCI are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005006185 SCV005631302 likely pathogenic Fanconi anemia complementation group I 2024-02-15 criteria provided, single submitter clinical testing

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