ClinVar Miner

Submissions for variant NM_005654.6(NR2F1):c.307T>C (p.Cys103Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002471324 SCV002767219 pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome 2022-03-31 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with Bosch-Boonstra-Schaaf optic atrophy syndrome (MIM#615722). Dominant-negative is also a suggested mechanism (PMID: 26986877). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0200 - Variant is predicted to result in a missense amino acid change from cysteine to arginine. (I) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0501 - Missense variant consistently predicted to be damaging by multiple in silico tools or highly conserved with a major amino acid change. (SP) 0601 - Variant is located in the well-established functional zinc finger DNA-binding domain, where functional assays on nearby missense variants demonstrated reduced transcriptional activity (PMID: 24462372). (SP) 0705 - No comparable missense variants have previous evidence for pathogenicity. (I) 0802 - This variant has moderate previous evidence of pathogenicity in an unrelated individual. This variant has been classified as likely pathogenic and observed to be de novo in an individual with features including muscular hypotonia, severe global developmental delay and generalized cerebral atrophy/hypoplasia (DECIPHER). (SP) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 1204 - This variant has been shown to be de novo in the proband (parental status not tested but assumed). (SP) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign

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