ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.1604T>C (p.Phe535Ser)

gnomAD frequency: 0.00001  dbSNP: rs1238325809
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623202 SCV000742000 uncertain significance Inborn genetic diseases 2016-11-25 criteria provided, single submitter clinical testing
Invitae RCV003748268 SCV004551672 uncertain significance Jeune thoracic dystrophy 2023-06-23 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. 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 expected to disrupt DYNC2H1 protein function. ClinVar contains an entry for this variant (Variation ID: 521417). This variant has not been reported in the literature in individuals affected with DYNC2H1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 535 of the DYNC2H1 protein (p.Phe535Ser).

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