ClinVar Miner

Submissions for variant NM_206965.2(FTCD):c.896G>C (p.Arg299Pro)

dbSNP: rs119469015
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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 RCV000004233 SCV004344449 uncertain significance Glutamate formiminotransferase deficiency 2023-04-28 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this missense change affects FTCD function (PMID: 12815595). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FTCD protein function. ClinVar contains an entry for this variant (Variation ID: 4018). This missense change has been observed in individual(s) with glutamate formiminotransferase deficiency (PMID: 12815595). This variant is present in population databases (rs119469015, gnomAD 0.0009%). This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 299 of the FTCD protein (p.Arg299Pro).
OMIM RCV000004233 SCV000024399 pathogenic Glutamate formiminotransferase deficiency 2003-07-01 no assertion criteria provided literature only

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