ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.4681G>A (p.Val1561Met)

gnomAD frequency: 0.00002  dbSNP: rs752129504
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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 RCV001937400 SCV002133445 benign Primary ciliary dyskinesia 2023-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV001937400 SCV003897298 uncertain significance Primary ciliary dyskinesia 2023-02-15 criteria provided, single submitter clinical testing The c.4681G>A (p.V1561M) alteration is located in exon 26 (coding exon 26) of the DNAH11 gene. This alteration results from a G to A substitution at nucleotide position 4681, causing the valine (V) at amino acid position 1561 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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