ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.3719T>C (p.Ile1240Thr)

gnomAD frequency: 0.00002  dbSNP: rs137853028
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003586123 SCV004296127 pathogenic Jeune thoracic dystrophy 2023-12-02 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1240 of the DYNC2H1 protein (p.Ile1240Thr). This variant is present in population databases (rs137853028, gnomAD 0.007%). This missense change has been observed in individual(s) with asphyxiating thoracic dystrophy (PMID: 19442771, 23339108, 23456818). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 6504). 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 with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000006877 SCV000027073 pathogenic Asphyxiating thoracic dystrophy 3 2009-05-01 no assertion criteria provided literature only

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