ClinVar Miner

Submissions for variant NM_206965.2(FTCD):c.1366dup (p.Glu456fs) (rs777099958)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000174355 SCV000225641 pathogenic not provided 2014-08-26 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000174355 SCV001153596 uncertain significance not provided 2018-02-01 criteria provided, single submitter clinical testing
Invitae RCV001199937 SCV001408987 uncertain significance GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY 2019-09-11 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the FTCD gene (p.Glu456Glyfs*56). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 86 amino acids of the FTCD protein. This variant is present in population databases (rs777099958, ExAC 0.03%). This variant has been observed in combination with another FTCD variant in individuals affected with glutamate formiminotransferase deficiency and has been shown to segregate with disease in a family (PMID: 29178637, 29869163). ClinVar contains an entry for this variant (Variation ID: 194078). Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV001199937 SCV001370724 pathogenic GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY 2020-07-04 no assertion criteria provided literature only

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