ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.4900G>A (p.Ala1634Thr)

gnomAD frequency: 0.00009  dbSNP: rs375527837
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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 RCV001976376 SCV002264744 benign Primary ciliary dyskinesia 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV001976376 SCV002634651 uncertain significance Primary ciliary dyskinesia 2022-12-05 criteria provided, single submitter clinical testing The c.4900G>A (p.A1634T) alteration is located in exon 28 (coding exon 28) of the DNAH11 gene. This alteration results from a G to A substitution at nucleotide position 4900, causing the alanine (A) at amino acid position 1634 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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