ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.4230G>T (p.Trp1410Cys)

gnomAD frequency: 0.00005  dbSNP: rs367916239
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000203962 SCV000260190 benign Primary ciliary dyskinesia 2023-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000203962 SCV004056459 uncertain significance Primary ciliary dyskinesia 2023-08-11 criteria provided, single submitter clinical testing The p.W1410C variant (also known as c.4230G>T), located in coding exon 23 of the DNAH11 gene, results from a G to T substitution at nucleotide position 4230. The tryptophan at codon 1410 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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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