ClinVar Miner

Submissions for variant NM_206965.2(FTCD):c.842C>T (p.Ala281Val)

gnomAD frequency: 0.00001  dbSNP: rs752941882
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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 RCV002568718 SCV002970819 uncertain significance Glutamate formiminotransferase deficiency 2022-06-29 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 975234). This variant has not been reported in the literature in individuals affected with FTCD-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 281 of the FTCD protein (p.Ala281Val). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251761 SCV001427503 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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