ClinVar Miner

Submissions for variant NM_001372.4(DNAH9):c.5126A>T (p.Gln1709Leu)

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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 RCV004977199 SCV005578456 uncertain significance Inborn genetic diseases 2024-07-30 criteria provided, single submitter clinical testing The c.5126A>T (p.Q1709L) alteration is located in exon 24 (coding exon 24) of the DNAH9 gene. This alteration results from a A to T substitution at nucleotide position 5126, causing the glutamine (Q) at amino acid position 1709 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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