ClinVar Miner

Submissions for variant NM_000112.3(SLC26A2):c.1744C>T (p.Arg582Cys) (rs142542254)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000326566 SCV000454823 uncertain significance Multiple epiphyseal dysplasia 4 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380779 SCV000454824 uncertain significance Diastrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295676 SCV000454825 uncertain significance Osteochondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350699 SCV000454826 uncertain significance Achondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386532 SCV000454827 uncertain significance Atelosteogenesis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000698655 SCV000827335 uncertain significance Achondrogenesis, type IB; Atelosteogenesis type 2; Multiple epiphyseal dysplasia 4; Diastrophic dysplasia 2018-11-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 582 of the SLC26A2 protein (p.Arg582Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs142542254, ExAC 0.05%). This variant has not been reported in the literature in individuals with SLC26A2-related disease. ClinVar contains an entry for this variant (Variation ID: 352028). 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 and their clinical significance is uncertain. 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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