ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.7729G>A (p.Asp2577Asn)

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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 RCV003053094 SCV003447430 benign Primary ciliary dyskinesia 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV003053094 SCV003745328 uncertain significance Primary ciliary dyskinesia 2022-06-30 criteria provided, single submitter clinical testing The c.7729G>A (p.D2577N) alteration is located in exon 47 (coding exon 47) of the DNAH11 gene. This alteration results from a G to A substitution at nucleotide position 7729, causing the aspartic acid (D) at amino acid position 2577 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003443113 SCV004169966 uncertain significance not provided 2023-05-10 criteria provided, single submitter clinical testing Reported as a variant of uncertain significance in a cohort of patients with chronic or frequent respiratory infections (Alsamri et al., 2021); Identified in an individual with VACTERL-like phenotype who also harbored variants in multiple other genes associated with cardiovascular development (Ritter et al., 2022); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34823266, 34768622)

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