ClinVar Miner

Submissions for variant NM_174878.3(CLRN1):c.190G>C (p.Gly64Arg)

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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 RCV002716617 SCV003007494 pathogenic not provided 2023-03-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Gly64 amino acid residue in CLRN1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 26338283). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1966493). A different variant (c.190G>A) giving rise to the same protein effect has been determined to be pathogenic (PMID: 25472526, 26338283). This suggests that this variant is also likely to be causative of disease. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 64 of the CLRN1 protein (p.Gly64Arg).
Baylor Genetics RCV004571222 SCV005058475 likely pathogenic Retinitis pigmentosa 61 2024-03-16 criteria provided, single submitter clinical testing

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