ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.12100C>G (p.Pro4034Ala)

gnomAD frequency: 0.00003  dbSNP: rs759056367
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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 RCV000697458 SCV000826070 benign Primary ciliary dyskinesia 2023-09-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000697458 SCV002652655 uncertain significance Primary ciliary dyskinesia 2024-05-04 criteria provided, single submitter clinical testing The p.P4034A variant (also known as c.12100C>G), located in coding exon 74 of the DNAH11 gene, results from a C to G substitution at nucleotide position 12100. The proline at codon 4034 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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