ClinVar Miner

Submissions for variant NM_021971.4(GMPPB):c.395C>G (p.Ser132Cys) (rs145535498)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000793053 SCV000932388 likely 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 2020-03-04 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 132 of the GMPPB protein (p.Ser132Cys). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is present in population databases (rs145535498, ExAC 0.002%). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in GMPPB in an individual affected with dystroglycanopathy (PMID: 26310427). ClinVar contains an entry for this variant (Variation ID: 49760412). 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 currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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