ClinVar Miner

Submissions for variant NM_206965.2(FTCD):c.211C>T (p.Arg71Ter)

gnomAD frequency: 0.00021  dbSNP: rs8133955
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578849 SCV000680834 pathogenic not provided 2022-01-24 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 29178637, 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV001224942 SCV001397171 pathogenic Glutamate formiminotransferase deficiency 2019-04-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg71*) in the FTCD gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs8133955, ExAC 0.06%). This variant has not been reported in the literature in individuals with FTCD-related conditions. ClinVar contains an entry for this variant (Variation ID: 488890). Loss-of-function variants in FTCD are known to be pathogenic (PMID: 29869163, 29178637). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV003403369 SCV004105694 likely pathogenic FTCD-related disorder 2023-03-28 criteria provided, single submitter clinical testing The FTCD c.211C>T variant is predicted to result in premature protein termination (p.Arg71*). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.044% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/21-47574090-G-A). Nonsense variants in FTCD are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001224942 SCV005661539 likely pathogenic Glutamate formiminotransferase deficiency 2024-02-27 criteria provided, single submitter clinical testing

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