ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.5281C>G (p.Arg1761Gly) (rs148891849)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000242807 SCV000307789 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001081786 SCV000558009 benign Primary ciliary dyskinesia 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000766911 SCV000619150 uncertain significance not provided 2017-07-19 criteria provided, single submitter clinical testing The R1761G variant in the DNAH5 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R1761G variant is observed in 111/10090 (1.1%) alleles from individuals of African background in the ExAC dataset (Lek et al., 2016). The R1761G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R1761G as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV001152318 SCV001313530 likely benign Ciliary dyskinesia, primary, 3 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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