ClinVar Miner

Submissions for variant NM_206965.2(FTCD):c.763C>T (p.Arg255Ter)

gnomAD frequency: 0.00003  dbSNP: rs140217223
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000779361 SCV001581199 pathogenic Glutamate formiminotransferase deficiency 2021-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000779361 SCV002802956 pathogenic Glutamate formiminotransferase deficiency 2021-11-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002535653 SCV003711842 pathogenic Inborn genetic diseases 2022-01-31 criteria provided, single submitter clinical testing The c.763C>T (p.R255*) alteration, located in exon 6 (coding exon 6) of the FTCD gene, consists of a C to T substitution at nucleotide position 763. This changes the amino acid from an arginine (R) to a stop codon at amino acid position 255. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from gnomAD, the T allele has an overall frequency of <0.01% (4/281380) total alleles studied. This mutation has been identified in a few individuals with glutamate formiminotransferase deficiency in conjunction with an FTCD frameshift variant (Majumdar, 2017; Ahrens-Nicklas, 2019). Based on the available evidence, this alteration is classified as pathogenic.
OMIM RCV000779361 SCV001370722 pathogenic Glutamate formiminotransferase deficiency 2022-06-17 no assertion criteria provided literature only

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