ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.1769C>T (p.Ser590Phe)

dbSNP: rs1269262525
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001971246 SCV002258838 uncertain significance Jeune thoracic dystrophy 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 590 of the DYNC2H1 protein (p.Ser590Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with DYNC2H1-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DYNC2H1 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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