Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156217 | SCV000205933 | uncertain significance | not specified | 2013-12-03 | criteria provided, single submitter | clinical testing | The Ala174Gly variant in ACTG1 has not been previously reported in individuals w ith hearing loss or in large population studies. Computational analyses (biochem ical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, add itional data is needed to determine the clinical significance of this variant. |
Division of Human Genetics, |
RCV000477934 | SCV000536865 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 | 2016-04-27 | no assertion criteria provided | research |