ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.10978G>C (p.Ala3660Pro)

gnomAD frequency: 0.00005  dbSNP: rs200057913
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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 RCV001934805 SCV002129661 benign Primary ciliary dyskinesia 2023-12-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV001934805 SCV002738600 uncertain significance Primary ciliary dyskinesia 2021-09-15 criteria provided, single submitter clinical testing The p.A3660P variant (also known as c.10978G>C), located in coding exon 67 of the DNAH11 gene, results from a G to C substitution at nucleotide position 10978. The alanine at codon 3660 is replaced by proline, 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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