ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.539C>T (p.Thr180Met) (rs863223722)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198523 SCV000250668 pathogenic not provided 2021-03-26 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar, including one laboratory reporting as de novo inheritance (ClinVar Variant ID# 213684; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 31980905)
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000677641 SCV000803771 likely pathogenic Shprintzen-Goldberg syndrome 2017-07-21 criteria provided, single submitter clinical testing
Invitae RCV000677641 SCV000957608 uncertain significance Shprintzen-Goldberg syndrome 2020-04-02 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 180 of the SKI protein (p.Thr180Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SKI-related conditions. ClinVar contains an entry for this variant (Variation ID: 213684). 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: Probably 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.
Ambry Genetics RCV001266088 SCV001444260 uncertain significance Inborn genetic diseases 2019-11-19 criteria provided, single submitter clinical testing

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