ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.1252G>A (p.Ala418Thr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002412360 SCV002675628 uncertain significance Primary ciliary dyskinesia 2017-07-25 criteria provided, single submitter clinical testing The p.A418T variant (also known as c.1252G>A), located in coding exon 10 of the DNAH5 gene, results from a G to A substitution at nucleotide position 1252. The alanine at codon 418 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002412360 SCV003488238 likely benign Primary ciliary dyskinesia 2024-12-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434477 SCV004153960 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing DNAH5: BP4

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