ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.11458G>A (p.Val3820Ile)

gnomAD frequency: 0.00006  dbSNP: rs777011433
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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 RCV001054552 SCV001218872 benign Primary ciliary dyskinesia 2024-01-12 criteria provided, single submitter clinical testing
GeneDx RCV001759995 SCV001999181 uncertain significance not provided 2019-11-09 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV001054552 SCV002617891 uncertain significance Primary ciliary dyskinesia 2022-11-08 criteria provided, single submitter clinical testing The c.11458G>A (p.V3820I) alteration is located in exon 70 (coding exon 70) of the DNAH11 gene. This alteration results from a G to A substitution at nucleotide position 11458, causing the valine (V) at amino acid position 3820 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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