ClinVar Miner

Submissions for variant NM_005321.2(H1-4):c.430dup (p.Ala144fs) (rs1131690805)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520243 SCV000618149 pathogenic not provided 2019-01-07 criteria provided, single submitter clinical testing The c.430dupG variant in the HIST1H1E gene has been reported previously as a de novo finding in two unrelated individuals with overgrowth and intellectual disability (Tatton-Brown et al., 2017). The c.430dupG variant causes a frameshift starting with codon Alanine 144, changes this amino acid to a Glycine residue, and creates a premature Stop codon at position 52 of the new reading frame, denoted p.Ala144GlyfsX52. This variant is predicted to cause loss of normal protein function through protein truncation as the last 76 residues are replaced by 51 incorrect amino acids. The c.430dupG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.430dupG as a pathogenic variant.
Ambry Genetics RCV000622551 SCV000742793 likely pathogenic Inborn genetic diseases 2017-08-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital RCV000492231 SCV000925235 pathogenic RAHMAN SYNDROME 2019-05-01 criteria provided, single submitter research
OMIM RCV000492231 SCV000580687 pathogenic RAHMAN SYNDROME 2017-06-27 no assertion criteria provided literature only
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000492231 SCV000966162 pathogenic RAHMAN SYNDROME 2019-05-06 no assertion criteria provided clinical testing

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