ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.13691T>C (p.Met4564Thr)

gnomAD frequency: 0.00001  dbSNP: rs970547854
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000793105 SCV000932445 uncertain significance Primary ciliary dyskinesia 2018-12-26 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DNAH8-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with threonine at codon 4564 of the DNAH8 protein (p.Met4564Thr). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and threonine.
Ambry Genetics RCV003362940 SCV004084926 uncertain significance Inborn genetic diseases 2023-08-08 criteria provided, single submitter clinical testing The c.13691T>C (p.M4564T) alteration is located in exon 91 (coding exon 90) of the DNAH8 gene. This alteration results from a T to C substitution at nucleotide position 13691, causing the methionine (M) at amino acid position 4564 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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