ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.11114A>G (p.Tyr3705Cys)

gnomAD frequency: 0.00005  dbSNP: rs370580628
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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 RCV000685097 SCV000812569 benign Primary ciliary dyskinesia 2023-10-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000685097 SCV004858255 uncertain significance Primary ciliary dyskinesia 2023-11-29 criteria provided, single submitter clinical testing The c.11114A>G (p.Y3705C) alteration is located in exon 68 (coding exon 68) of the DNAH11 gene. This alteration results from a A to G substitution at nucleotide position 11114, causing the tyrosine (Y) at amino acid position 3705 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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