ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.5128G>A (p.Val1710Ile)

gnomAD frequency: 0.00004  dbSNP: rs756038605
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816855 SCV000957382 uncertain significance Primary ciliary dyskinesia 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 1710 of the DNAH8 protein (p.Val1710Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with DNAH8-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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