Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001056272 | SCV001220706 | uncertain significance | Primary ciliary dyskinesia | 2022-07-05 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 4613 of the DNAH8 protein (p.Glu4613Val). This variant is present in population databases (rs375455553, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with DNAH8-related conditions. ClinVar contains an entry for this variant (Variation ID: 851798). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
Ambry Genetics | RCV003283921 | SCV003962477 | uncertain significance | Inborn genetic diseases | 2023-04-24 | criteria provided, single submitter | clinical testing | The c.13838A>T (p.E4613V) alteration is located in exon 93 (coding exon 92) of the DNAH8 gene. This alteration results from a A to T substitution at nucleotide position 13838, causing the glutamic acid (E) at amino acid position 4613 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |