ClinVar Miner

Submissions for variant NM_174878.3(CLRN1):c.322C>T (p.Leu108Phe)

gnomAD frequency: 0.00005  dbSNP: rs144691725
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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 RCV002480918 SCV002792852 uncertain significance Retinitis pigmentosa; Retinitis pigmentosa 61; Usher syndrome type 3A 2022-01-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541728 SCV003446813 uncertain significance not provided 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 108 of the CLRN1 protein (p.Leu108Phe). This variant is present in population databases (rs144691725, 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: 991770). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The phenylalanine 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.
Natera, Inc. RCV001280038 SCV001467184 uncertain significance Usher syndrome type 3A 2020-09-23 no assertion criteria provided clinical testing

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