ClinVar Miner

Submissions for variant NM_206965.2(FTCD):c.532G>T (p.Ala178Ser)

gnomAD frequency: 0.00006  dbSNP: rs911364543
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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 RCV001294330 SCV001483203 uncertain significance Glutamate formiminotransferase deficiency 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 178 of the FTCD protein (p.Ala178Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FTCD-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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 RCV004035604 SCV004875647 uncertain significance Inborn genetic diseases 2024-02-26 criteria provided, single submitter clinical testing The c.532G>T (p.A178S) alteration is located in exon 5 (coding exon 5) of the FTCD gene. This alteration results from a G to T substitution at nucleotide position 532, causing the alanine (A) at amino acid position 178 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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