ClinVar Miner

Submissions for variant NM_001371986.1(UNC80):c.7700_7701del (p.Thr2567fs)

dbSNP: rs1575147319
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breda Genetics srl RCV001029754 SCV001190335 likely pathogenic Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 criteria provided, single submitter clinical testing The variant creates a shift in the reading frame which is predicted to result in a premature stop codon 4 amino acids downstream which is likely to result in a truncated protein or protein loss due to nonsense-mediated messenger decay (NMD). This variant has not been reported in dbSNP, gnomAD, 1000 Genomes, NHLI Exome Sequencing Project (ESP) or ClinVar. Pathogenic nonsense mutations in the UNC80 gene have been previously reported (ClinVar).
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV001029754 SCV002764942 pathogenic Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 2021-04-13 criteria provided, single submitter clinical testing

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