ClinVar Miner

Submissions for variant NM_174878.3(CLRN1):c.406G>A (p.Gly136Arg)

gnomAD frequency: 0.00001  dbSNP: rs904836940
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002486066 SCV002792360 uncertain significance Retinitis pigmentosa; Retinitis pigmentosa 61; Usher syndrome type 3A 2022-02-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002542940 SCV003487004 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 136 of the CLRN1 protein (p.Gly136Arg). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 991769). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Natera, Inc. RCV001280037 SCV001467183 uncertain significance Usher syndrome type 3A 2020-08-14 no assertion criteria provided clinical testing

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