Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000083250 | SCV004298752 | uncertain significance | not provided | 2023-06-24 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This frameshift has been observed in individual(s) with X-linked colobomatous microphthalmia syndrome. (PMID: 24993872). This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the HMGB3 gene (p.Lys161Ilefs*55). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 40 amino acid(s) of the HMGB3 protein and extend the protein by 14 additional amino acid residues. |
Johns Hopkins Genetic Resources Core Facility; Johns Hopkins University | RCV000083250 | SCV000115324 | not provided | not provided | no assertion provided | not provided | ||
OMIM | RCV000128635 | SCV000172270 | pathogenic | X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome | 2014-07-03 | no assertion criteria provided | literature only |