ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.5992G>A (p.Gly1998Arg)

gnomAD frequency: 0.00001  dbSNP: rs1298790222
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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 RCV000691163 SCV000818908 pathogenic Primary ciliary dyskinesia 2023-09-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on DNAH5 protein function. ClinVar contains an entry for this variant (Variation ID: 570323). This missense change has been observed in individual(s) with primary ciliary dyskinesia (PMID: 31638833; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1998 of the DNAH5 protein (p.Gly1998Arg).
Ambry Genetics RCV000691163 SCV002657130 uncertain significance Primary ciliary dyskinesia 2017-02-07 criteria provided, single submitter clinical testing The p.G1998R variant (also known as c.5992G>A), located in coding exon 36 of the DNAH5 gene, results from a G to A substitution at nucleotide position 5992. The glycine at codon 1998 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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