ClinVar Miner

Submissions for variant NM_001365902.3(NFIX):c.325G>T (p.Asp109Tyr)

dbSNP: rs2145192459
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001785348 SCV002026356 likely pathogenic Malan overgrowth syndrome 2021-11-01 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PS4_MOD, PM1, PM2_SUP, PP2, PP3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV001785348 SCV002768627 pathogenic Malan overgrowth syndrome 2022-09-02 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease for this gene. (N) 0107 - This gene is known to be associated with autosomal dominant disease. (N) 0200 - Variant is predicted to result in a missense amino acid change from aspartic acid to tyrosine (exon 2). (N) 0251 - Variant is heterozygous. (N) 0301 - Variant is absent from gnomAD. (P) 0501 - Missense variant consistently predicted to be damaging by multiple in-silico tools or highly conserved with a major amino acid change. (P) 0602 - Variant is located in a hotspot region or cluster of pathogenic variants. (Decipher) (P) 0708 - Comparable variant has been previously reported as a VUS (ClinVar). (N) 0802 - Moderate previous evidence of pathogenicity in a de novo individual (Tatton-Brown, K. et al. (2017)). (P) 0905 - No segregation evidence has been identified for this variant. (N) 1007 - No published functional evidence has been identified for this variant. (N) 1102 - Strong phenotype match. (P) 1204 - Variant shown to be de novo in proband (parental status not tested but assumed). (P) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign

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