ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.5413A>G (p.Ile1805Val)

gnomAD frequency: 0.00001  dbSNP: rs776549742
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002021975 SCV002263650 benign Primary ciliary dyskinesia 2023-12-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484915 SCV002783169 uncertain significance Primary ciliary dyskinesia 7 2021-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002021975 SCV003988596 uncertain significance Primary ciliary dyskinesia 2023-04-27 criteria provided, single submitter clinical testing The c.5413A>G (p.I1805V) alteration is located in exon 31 (coding exon 31) of the DNAH11 gene. This alteration results from a A to G substitution at nucleotide position 5413, causing the isoleucine (I) at amino acid position 1805 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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