ClinVar Miner

Submissions for variant NM_174878.3(CLRN1):c.407G>A (p.Gly136Glu)

gnomAD frequency: 0.00002  dbSNP: rs779258184
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001246418 SCV001419772 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 glutamic acid, which is acidic and polar, at codon 136 of the CLRN1 protein (p.Gly136Glu). This variant is present in population databases (rs779258184, gnomAD 0.2%). This missense change has been observed in individual(s) with clinical features of CLRN1-related conditions (PMID: 31960602). ClinVar contains an entry for this variant (Variation ID: 556027). 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.
Myriad Genetics, Inc. RCV001810476 SCV002060315 uncertain significance Usher syndrome type 3A 2021-10-01 criteria provided, single submitter clinical testing NM_174878.2(CLRN1):c.407G>A(G136E) is a missense variant classified as a variant of uncertain significance in the context of Usher syndrome type 3. G136E has been observed in cases with relevant disease (PMID: 27610647, 28471114, 25268133, 31960602, 31213501). Functional assessments of this variant are not available in the literature. G136E has been observed in population frequency databases (gnomAD: EAS 0.17%). In summary, there is insufficient evidence to classify NM_174878.2(CLRN1):c.407G>A(G136E) as pathogenic or benign. Please note: this variant was assessed in the context of healthy population screening.
Dept Of Ophthalmology, Nagoya University RCV003889961 SCV004705690 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV000671965 SCV002081532 uncertain significance Usher syndrome type 3 2020-01-10 no assertion criteria provided clinical testing

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