ClinVar Miner

Submissions for variant NM_021971.2(GMPPB):c.656T>C (p.Ile219Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698360 SCV000827020 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 2018-09-25 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 219 of the GMPPB protein (p.Ile219Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs761714818, ExAC 0.01%). This variant has been reported to segregate with alpha-dystroglycanopathy in families (PMID: 24780531, 26133662). This variant has also been reported in individuals affected with congenital muscular dystrophy (PMID: 26310427, Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.

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