ClinVar Miner

Submissions for variant NM_174878.3(CLRN1):c.668C>T (p.Thr223Ile)

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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 RCV002755690 SCV003015333 uncertain significance not provided 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 223 of the CLRN1 protein (p.Thr223Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CLRN1-related conditions. 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: "Tolerated"; 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.
Dept Of Ophthalmology, Nagoya University RCV003889158 SCV004705684 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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