ClinVar Miner

Submissions for variant NM_012144.4(DNAI1):c.40C>T (p.His14Tyr)

gnomAD frequency: 0.00059  dbSNP: rs146501326
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703682 SCV000832595 likely benign Primary ciliary dyskinesia 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000703682 SCV002626829 uncertain significance Primary ciliary dyskinesia 2018-06-22 criteria provided, single submitter clinical testing The p.H14Y variant (also known as c.40C>T), located in coding exon 1 of the DNAI1 gene, results from a C to T substitution at nucleotide position 40. The histidine at codon 14 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is poorly 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.
Natera, Inc. RCV000703682 SCV001458359 uncertain significance Primary ciliary dyskinesia 2019-10-28 no assertion criteria provided clinical testing

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