ClinVar Miner

Submissions for variant NM_021971.4(GMPPB):c.1070G>A (p.Arg357His) (rs771861177)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705475 SCV000834474 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 2018-07-05 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 357 of the GMPPB protein (p.Arg357His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs771861177, ExAC 0.03%). This variant has been reported to segregate with limb girdle muscular dystrophy/congenital myasthenic syndrome in a family (PMID: 28433477) and has been reported in several additional affected individuals (PMID: 28433477). Experimental studies have shown that this missense change results in increased protein aggregation in vitro (PMID: 28433477). 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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