ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.355C>G (p.Pro119Ala)

gnomAD frequency: 0.00002  dbSNP: rs747193364
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705572 SCV000834574 benign Primary ciliary dyskinesia 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000705572 SCV002618821 uncertain significance Primary ciliary dyskinesia 2017-06-28 criteria provided, single submitter clinical testing The p.P119A variant (also known as c.355C>G), located in coding exon 2 of the DNAH11 gene, results from a C to G substitution at nucleotide position 355. The proline at codon 119 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is highly 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.

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