ClinVar Miner

Submissions for variant NM_174878.3(CLRN1):c.670A>G (p.Thr224Ala)

gnomAD frequency: 0.00007  dbSNP: rs764632225
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001340001 SCV001533790 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 224 of the CLRN1 protein (p.Thr224Ala). This variant is present in population databases (rs764632225, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CLRN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1036925). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV003888038 SCV004705683 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001836325 SCV002081525 uncertain significance Usher syndrome type 3 2020-08-18 no assertion criteria provided clinical testing

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