ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.13409C>T (p.Ser4470Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002589569 SCV002943013 benign Primary ciliary dyskinesia 2023-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002589569 SCV004857561 uncertain significance Primary ciliary dyskinesia 2024-02-21 criteria provided, single submitter clinical testing The c.13409C>T (p.S4470L) alteration is located in exon 77 (coding exon 77) of the DNAH5 gene. This alteration results from a C to T substitution at nucleotide position 13409, causing the serine (S) at amino acid position 4470 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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