ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.811C>T (p.His271Tyr)

dbSNP: rs751575627
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000629470 SCV000750414 benign Primary ciliary dyskinesia 2023-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000629470 SCV003867172 uncertain significance Primary ciliary dyskinesia 2022-12-17 criteria provided, single submitter clinical testing The p.H271Y variant (also known as c.811C>T), located in coding exon 4 of the DNAH11 gene, results from a C to T substitution at nucleotide position 811. The histidine at codon 271 is replaced by tyrosine, an amino acid with similar 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.

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