ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.11345A>C (p.Asn3782Thr)

gnomAD frequency: 0.00004  dbSNP: rs150057448
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001053949 SCV001218236 uncertain significance Primary ciliary dyskinesia 2024-10-29 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with threonine, which is neutral and polar, at codon 3782 of the DNAH8 protein (p.Asn3782Thr). This variant is present in population databases (rs150057448, gnomAD 0.02%). 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: 849895). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt DNAH8 protein function with a positive predictive value of 80%. 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, Fulgent Genetics RCV002481983 SCV002804000 uncertain significance Spermatogenic failure 46 2021-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004619496 SCV005119187 uncertain significance not specified 2024-04-23 criteria provided, single submitter clinical testing The c.11345A>C (p.N3782T) alteration is located in exon 76 (coding exon 75) of the DNAH8 gene. This alteration results from a A to C substitution at nucleotide position 11345, causing the asparagine (N) at amino acid position 3782 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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