Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000998549 | SCV001154679 | uncertain significance | not provided | 2018-09-01 | criteria provided, single submitter | clinical testing | |
Genetics Laboratory, |
RCV001420269 | SCV001622689 | likely pathogenic | See cases | 2021-04-26 | criteria provided, single submitter | clinical testing | PM2_supporting;PM6_moderate;PP3_supporting;PP5_supporting;BP1_supporting |
Ambry Genetics | RCV003346251 | SCV004067378 | pathogenic | Inborn genetic diseases | 2023-07-13 | criteria provided, single submitter | clinical testing | The c.136C>T (p.R46C) alteration is located in exon 1 (coding exon 1) of the HIST1H4E gene. This alteration results from a C to T substitution at nucleotide position 136, causing the arginine (R) at amino acid position 46 to be replaced by a cysteine (C). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant has been determined to be the result of a de novo mutation in multiple individuals with features consistent with H4C5-related Tessadori-van Haaften neurodevelopmental syndrome (Tessadori, 2022). This amino acid position is highly conserved in available vertebrate species. This alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as pathogenic. |
Laboratory of Diagnostic Genome Analysis, |
RCV000998549 | SCV001798535 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000998549 | SCV001808124 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000998549 | SCV001968407 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
OMIM | RCV003152614 | SCV003841062 | pathogenic | Tessadori-Van Haaften neurodevelopmental syndrome 3 | 2023-01-20 | no assertion criteria provided | literature only |