ClinVar Miner

Submissions for variant NM_174878.3(CLRN1):c.218A>G (p.Gln73Arg)

gnomAD frequency: 0.00016  dbSNP: rs201008540
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000614663 SCV000710995 uncertain significance not specified 2016-06-02 criteria provided, single submitter clinical testing The p.Gln73Arg variant in CLRN1 has been previously reported in 1 individual wit h Usher syndrome (Licastro 2012); however, a variant affecting the remaining cop y of CLRN1 was not identified, and that individual was heterozygous for a pathog enic variant in another gene. This variant has been identified in 22/66714 of Eu ropean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadi nstitute.org; dbSNP rs201008540); however, its frequency is not high enough to r ule out a pathogenic role. Computational prediction tools and conservation analy ses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical sign ificance of the p.Gln73Arg variant is uncertain.
Counsyl RCV000668103 SCV000792654 uncertain significance Usher syndrome type 3 2017-07-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001041687 SCV001205314 uncertain significance not provided 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 73 of the CLRN1 protein (p.Gln73Arg). This variant is present in population databases (rs201008540, gnomAD 0.03%). This missense change has been observed in individual(s) with Usher syndrome (PMID: 22952768). ClinVar contains an entry for this variant (Variation ID: 504559). 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"). 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.
Fulgent Genetics, Fulgent Genetics RCV002483668 SCV002785016 uncertain significance Retinitis pigmentosa; Retinitis pigmentosa 61; Usher syndrome type 3A 2021-12-10 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817812 SCV005069517 uncertain significance Retinal dystrophy 2023-01-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273482 SCV001456564 uncertain significance Usher syndrome type 3A 2020-09-16 no assertion criteria provided clinical testing

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