Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000629418 | SCV000750357 | uncertain significance | Primary ciliary dyskinesia | 2021-08-26 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with methionine at codon 3009 of the DNAH8 protein (p.Leu3009Met). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and methionine. This variant is present in population databases (rs199779645, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with DNAH8-related conditions. 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"). 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. |
Fulgent Genetics, |
RCV002483768 | SCV002788546 | uncertain significance | Spermatogenic failure 46 | 2022-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002533168 | SCV003578339 | uncertain significance | Inborn genetic diseases | 2021-09-01 | criteria provided, single submitter | clinical testing | The c.9025C>A (p.L3009M) alteration is located in exon 61 (coding exon 60) of the DNAH8 gene. This alteration results from a C to A substitution at nucleotide position 9025, causing the leucine (L) at amino acid position 3009 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |