ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.11869G>A (p.Asp3957Asn) (rs749548708)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000603454 SCV000713846 uncertain significance not specified 2018-01-26 criteria provided, single submitter clinical testing The p.Asp3957Asn variant in DNAH5 has not been previously reported in individual s with PCD, but has been identified in 2/246028 of chromosomes by the Genome Agg regation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs749548708). Computational prediction tools and conservation analysis suggest that the p.Asp 3957Asn variant may not impact the protein, though this information is not predi ctive enough to rule out pathogenicity. In summary, the clinical significance of the p.Asp3957Asn variant is uncertain. ACMG/AMP Criteria applied: PM2; BP4.
Invitae RCV000629495 SCV000750440 uncertain significance Primary ciliary dyskinesia 2017-12-05 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 3957 of the DNAH5 protein (p.Asp3957Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs749548708, ExAC 0.01%). This variant has not been reported in the literature in individuals with DNAH5-related disease. 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: "Tolerated"; 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.

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