ClinVar Miner

Submissions for variant NM_005342.4(HMGB3):c.480_481dup (p.Lys161fs)

dbSNP: rs431825172
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Total submissions: 3
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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

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