ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.13229C>G (p.Thr4410Ser)

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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 RCV002927751 SCV003263960 likely benign Primary ciliary dyskinesia 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002927751 SCV004857558 uncertain significance Primary ciliary dyskinesia 2024-08-10 criteria provided, single submitter clinical testing The c.13229C>G (p.T4410S) alteration is located in exon 76 (coding exon 76) of the DNAH5 gene. This alteration results from a C to G substitution at nucleotide position 13229, causing the threonine (T) at amino acid position 4410 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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