ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.5143C>T (p.Arg1715Cys)

gnomAD frequency: 0.00022  dbSNP: rs531475386
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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 RCV000629355 SCV000750291 benign Primary ciliary dyskinesia 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000629355 SCV002641036 uncertain significance Primary ciliary dyskinesia 2022-06-12 criteria provided, single submitter clinical testing The p.R1715C variant (also known as c.5143C>T), located in coding exon 30 of the DNAH11 gene, results from a C to T substitution at nucleotide position 5143. The arginine at codon 1715 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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