ClinVar Miner

Submissions for variant NM_013334.3(GMPPB):c.1129G>A (p.Gly377Ser) (rs184127567)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726214 SCV000342949 uncertain significance not provided 2016-06-22 criteria provided, single submitter clinical testing
GeneDx RCV000391570 SCV000618062 uncertain significance not specified 2017-11-01 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the GMPPB gene. The G377S variant has notbeen published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is observed in 232/34388 (0.7%) alleles from individuals of Latino background, in large population cohorts (Lek et al., 2016). The G377S variant is a non-conservative amino acidsubstitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000556766 SCV000653746 likely benign 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 2017-12-13 criteria provided, single submitter clinical testing

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