Submissions for variant NM_024513.4(FYCO1):c.364C>G (p.Gln122Glu)

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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	RCV001941439	SCV002224467	uncertain significance	Cataract 18	2021-03-10	criteria provided, single submitter	clinical testing	This sequence change replaces glutamine with glutamic acid at codon 122 of the FYCO1 protein (p.Gln122Glu). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is present in population databases (rs779617235, ExAC 0.006%). This variant has been observed in individual(s) with congenital cataracts (Invitae). It has also been observed to segregate with disease in related individuals. 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"). 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.
CeGaT Center for Human Genetics Tuebingen	RCV002264434	SCV002544804	uncertain significance	not provided	2022-04-01	criteria provided, single submitter	clinical testing

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