ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.8751T>G (p.Tyr2917Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002373560 SCV002686224 pathogenic Primary ciliary dyskinesia 2016-02-10 criteria provided, single submitter clinical testing The p.Y2917* pathogenic mutation (also known as c.8751T>G), located in coding exon 52 of the DNAH5 gene, results from a T to G substitution at nucleotide position 8751. This changes the amino acid from a tyrosine to a stop codon within coding exon 52. Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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