ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.6245G>C (p.Arg2082Pro)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002366631 SCV002659463 uncertain significance Primary ciliary dyskinesia 2017-05-05 criteria provided, single submitter clinical testing The p.R2082P variant (also known as c.6245G>C), located in coding exon 37 of the DNAH11 gene, results from a G to C substitution at nucleotide position 6245. The arginine at codon 2082 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002366631 SCV004301381 benign Primary ciliary dyskinesia 2024-02-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004534066 SCV004711758 uncertain significance DNAH11-related disorder 2023-12-01 no assertion criteria provided clinical testing The DNAH11 c.6245G>C variant is predicted to result in the amino acid substitution p.Arg2082Pro. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.033% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-21742392-G-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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