ClinVar Miner

Submissions for variant NM_206965.2(FTCD):c.49C>A (p.Gln17Lys)

gnomAD frequency: 0.00003  dbSNP: rs776696117
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003240843 SCV003939605 uncertain significance Inborn genetic diseases 2023-06-13 criteria provided, single submitter clinical testing The c.49C>A (p.Q17K) alteration is located in exon 1 (coding exon 1) of the FTCD gene. This alteration results from a C to A substitution at nucleotide position 49, causing the glutamine (Q) at amino acid position 17 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003779885 SCV004683498 uncertain significance Glutamate formiminotransferase deficiency 2023-09-03 criteria provided, single submitter clinical testing This variant is present in population databases (rs776696117, gnomAD 0.002%). This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 17 of the FTCD protein (p.Gln17Lys). This variant has not been reported in the literature in individuals affected with FTCD-related conditions. 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. 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: 2513721).

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