ClinVar Miner

Submissions for variant NM_206965.2(FTCD):c.197C>T (p.Ala66Val)

gnomAD frequency: 0.00002  dbSNP: rs199867833
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596932 SCV000709045 uncertain significance not provided 2017-06-07 criteria provided, single submitter clinical testing
Invitae RCV000803813 SCV000943699 uncertain significance Glutamate formiminotransferase deficiency 2022-06-14 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 502351). This variant has not been reported in the literature in individuals affected with FTCD-related conditions. This variant is present in population databases (rs199867833, gnomAD 0.005%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 66 of the FTCD protein (p.Ala66Val).

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