ClinVar Miner

Submissions for variant NM_012418.4(FSCN2):c.469C>T (p.Arg157Trp)

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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 RCV002605624 SCV002961678 uncertain significance not provided 2022-09-23 criteria provided, single submitter clinical testing 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. 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"). This variant has not been reported in the literature in individuals affected with FSCN2-related conditions. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 157 of the FSCN2 protein (p.Arg157Trp).
Dept Of Ophthalmology, Nagoya University RCV003889137 SCV004706248 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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