ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.9935A>T (p.Asp3312Val) (rs72657389)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150449 SCV000197635 likely benign not specified 2015-09-30 criteria provided, single submitter clinical testing p.Asp3312Val in exon 61 of DNAH11: This variant is not expected to have clinical significance because it has been identified in 0.7% (88/12864) of European chro mosomes, including 1 homozygote by the Exome Aggregation Consortium (ExAC, http: //exac.broadinstitute.org; dbSNP rs72657389).
Invitae RCV001080094 SCV000287041 benign Primary ciliary dyskinesia 2020-12-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000150449 SCV000307612 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000767007 SCV000620056 uncertain significance not provided 2017-08-21 criteria provided, single submitter clinical testing The D3312V variant in the DNAH11 gene has been reported previously as a benign variant in a study of individuals with primary ciliary dyskinesia, but no additional clinical or segregation information was provided (Knowles et al., 2012). The D3312V variant is observed in 153/27,498 (0.56%) alleles, including in one homozygous individual, in the ExAC dataset (Lek et al., 2016). The D3312V variant is reported as benign in ClinVar but additional evidence is not available (Landrum et al., 2016; ClinVar SCV000287041.2, SCV000307612.1). This substitution occurs at a position that is not conserved. However, the D3312V 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. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret D3312V as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV001164291 SCV001326406 likely benign Ciliary dyskinesia, primary, 7 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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