ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.10648T>C (p.Ser3550Pro) (rs200460601)

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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 RCV000210575 SCV000262922 uncertain significance Inborn genetic diseases 2012-10-01 criteria provided, single submitter clinical testing
Invitae RCV000799119 SCV000938768 uncertain significance Jeune thoracic dystrophy 2018-09-23 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 3557 of the DYNC2H1 protein (p.Ser3557Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. This variant is present in population databases (rs200460601, ExAC 0.1%). This variant has been observed in individuals with asphyxiating thoracic dysplasia (PMID: 23339108, 28973083) and in an individual who underwent exome sequencing (PMID: 25356970). ClinVar contains an entry for this variant (Variation ID: 225033). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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