ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.6731A>T (p.Lys2244Met) (rs187023993)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155508 SCV000205207 uncertain significance not specified 2014-11-05 criteria provided, single submitter clinical testing The p.Lys2244Met variant in DNAH5 has not been previously reported in individual s with pulmonary diseases, but has been identified in 3/8600 European American c hromosomes by the NHLBI Exome Sequencing Project ( VS/; dbSNP rs187023993). Computational prediction tools and conservation analysi s suggest that this variant may impact the protein, though this information is n ot predictive enough to determine pathogenicity. In summary, the clinical signif icance of the p.Lys2244Met variant is uncertain.
Invitae RCV000205957 SCV000260150 uncertain significance Primary ciliary dyskinesia 2019-10-21 criteria provided, single submitter clinical testing This sequence change replaces lysine with methionine at codon 2244 of the DNAH5 protein (p.Lys2244Met). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and methionine. This variant is present in population databases (rs187023993, ExAC 0.06%). This variant has not been reported in the literature in individuals with DNAH5-related disease. ClinVar contains an entry for this variant (Variation ID: 178748). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV000205957 SCV001457555 uncertain significance Primary ciliary dyskinesia 2020-04-18 no assertion criteria provided clinical testing

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