ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.7559T>C (p.Val2520Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002394003 SCV002672865 uncertain significance Primary ciliary dyskinesia 2017-09-28 criteria provided, single submitter clinical testing The p.V2520A variant (also known as c.7559T>C), located in coding exon 46 of the DNAH11 gene, results from a T to C substitution at nucleotide position 7559. The valine at codon 2520 is replaced by alanine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002394003 SCV004281237 benign Primary ciliary dyskinesia 2023-10-13 criteria provided, single submitter clinical testing

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