ClinVar Miner

Submissions for variant NM_206965.2(FTCD):c.862_864del (p.Lys288del)

dbSNP: rs1321726682
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001215258 SCV001386992 uncertain significance Glutamate formiminotransferase deficiency 2020-02-24 criteria provided, single submitter clinical testing This variant, c.862_864del, results in the deletion of 1 amino acid(s) of the FTCD protein (p.Lys288del), but otherwise preserves the integrity of the reading frame. 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. This variant has not been reported in the literature in individuals with FTCD-related conditions. This variant is not present in population databases (ExAC no frequency).

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