ClinVar Miner

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

dbSNP: 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 2023-07-24 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; 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 pathogenic Shprintzen-Goldberg syndrome 2022-03-18 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with clinical features of Shprintzen-Goldberg syndrome (PMID: 31980905). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic. 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 SKI protein function. ClinVar contains an entry for this variant (Variation ID: 213684). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 180 of the SKI protein (p.Thr180Met).
Ambry Genetics RCV001266088 SCV001444260 uncertain significance Inborn genetic diseases 2019-11-19 criteria provided, single submitter clinical testing

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