ClinVar Miner

Submissions for variant NM_206965.2(FTCD):c.1615C>T (p.Arg539Trp)

dbSNP: rs756994444
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001231088 SCV001403593 uncertain significance Glutamate formiminotransferase deficiency 2023-12-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 539 of the FTCD protein (p.Arg539Trp). This variant is present in population databases (rs756994444, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FTCD-related conditions. ClinVar contains an entry for this variant (Variation ID: 958004). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV002563759 SCV003689750 uncertain significance Inborn genetic diseases 2022-08-30 criteria provided, single submitter clinical testing The c.1615C>T (p.R539W) alteration is located in exon 14 (coding exon 14) of the FTCD gene. This alteration results from a C to T substitution at nucleotide position 1615, causing the arginine (R) at amino acid position 539 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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