ClinVar Miner

Submissions for variant NM_001372.4(DNAH9):c.959T>C (p.Leu320Pro)

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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 RCV004622073 SCV005119236 uncertain significance Inborn genetic diseases 2024-03-21 criteria provided, single submitter clinical testing The c.959T>C (p.L320P) alteration is located in exon 5 (coding exon 5) of the DNAH9 gene. This alteration results from a T to C substitution at nucleotide position 959, causing the leucine (L) at amino acid position 320 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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