ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.6307T>A (p.Ser2103Thr) (rs201003494)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000405505 SCV000366717 uncertain significance Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302504 SCV000366718 uncertain significance Short Rib Polydactyly Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000405505 SCV000630952 uncertain significance Jeune thoracic dystrophy 2017-05-08 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 2103 of the DYNC2H1 protein (p.Ser2103Thr). The serine residue is highly conserved and there is a small physicochemical difference between serine and threonine. The frequency data for this variant (rs201003494) in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a DYNC2H1-related disease. ClinVar contains an entry for this variant (Variation ID: 302053). 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 disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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