ClinVar Miner

Submissions for variant NM_206965.2(FTCD):c.1031_1061del (p.Val344fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005032725 SCV005661524 likely pathogenic Glutamate formiminotransferase deficiency 2024-04-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005032725 SCV005725167 pathogenic Glutamate formiminotransferase deficiency 2024-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val344Alafs*24) in the FTCD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FTCD are known to be pathogenic (PMID: 29178637, 30740726). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FTCD-related conditions. For these reasons, this variant has been classified as Pathogenic.

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