ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.3129T>A (p.Asp1043Glu)

gnomAD frequency: 0.00009  dbSNP: rs573755164
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537231 SCV000624008 uncertain significance Primary ciliary dyskinesia 2024-01-12 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 1043 of the DNAH8 protein (p.Asp1043Glu). This variant is present in population databases (rs573755164, gnomAD 0.2%). 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: 454566). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available". The glutamic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002525264 SCV003688512 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.3129T>A (p.D1043E) alteration is located in exon 23 (coding exon 22) of the DNAH8 gene. This alteration results from a T to A substitution at nucleotide position 3129, causing the aspartic acid (D) at amino acid position 1043 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003144311 SCV003831754 uncertain significance Spermatogenic failure 46 2020-06-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915475 SCV004734467 likely benign DNAH8-related condition 2023-02-13 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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