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

gnomAD frequency: 0.00021  dbSNP: rs8133955

Total submissions: 3

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)
Invitae	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 condition	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.