ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.10303T>A (p.Cys3435Ser)

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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 RCV002383595 SCV002696070 uncertain significance Primary ciliary dyskinesia 2021-12-18 criteria provided, single submitter clinical testing The p.C3435S variant (also known as c.10303T>A), located in coding exon 63 of the DNAH11 gene, results from a T to A substitution at nucleotide position 10303. The cysteine at codon 3435 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. 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 RCV002383595 SCV004270635 benign Primary ciliary dyskinesia 2024-01-05 criteria provided, single submitter clinical testing

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