ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.466T>A (p.Leu156Ile)

gnomAD frequency: 0.00001  dbSNP: rs765931519
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549152 SCV000630950 uncertain significance Jeune thoracic dystrophy 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces leucine with isoleucine at codon 156 of the DYNC2H1 protein (p.Leu156Ile). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and isoleucine. This variant is present in population databases (rs765931519, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with DYNC2H1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
GenomeConnect - Invitae Patient Insights Network RCV003330757 SCV004037560 not provided Asphyxiating thoracic dystrophy 1 no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 07-26-2017 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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