ClinVar Miner

Submissions for variant NM_206965.2(FTCD):c.1352C>T (p.Pro451Leu)

gnomAD frequency: 0.00011  dbSNP: rs376845160
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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 RCV001304863 SCV001494167 uncertain significance Glutamate formiminotransferase deficiency 2022-01-18 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 451 of the FTCD protein (p.Pro451Leu). This variant is present in population databases (rs376845160, gnomAD 0.02%). 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: 340418). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV004619264 SCV005117862 uncertain significance Inborn genetic diseases 2024-05-01 criteria provided, single submitter clinical testing The c.1352C>T (p.P451L) alteration is located in exon 12 (coding exon 12) of the FTCD gene. This alteration results from a C to T substitution at nucleotide position 1352, causing the proline (P) at amino acid position 451 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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