ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.11702C>T (p.Ala3901Val)

gnomAD frequency: 0.00002  dbSNP: rs749482996
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703085 SCV000831967 uncertain significance Primary ciliary dyskinesia 2022-06-03 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 579729). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 3901 of the DNAH8 protein (p.Ala3901Val). This variant is present in population databases (rs749482996, gnomAD 0.005%). 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 valine 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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