ClinVar Miner

Submissions for variant NM_001243766.1(POMGNT1):c.269G>A (p.Arg90His) (rs139701867)

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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 RCV000407599 SCV000344801 uncertain significance not provided 2017-12-07 criteria provided, single submitter clinical testing
Invitae RCV000524954 SCV000649966 uncertain significance Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 2017-06-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 90 of the POMGNT1 protein (p.Arg90His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs139701867, ExAC 0.07%). This variant has not been reported in the literature in individuals with a POMGNT1-related disease. ClinVar contains an entry for this variant (Variation ID: 290280). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on POMGNT1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000763938 SCV000894883 uncertain significance Muscle eye brain disease; Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3; Retinitis pigmentosa 76 2018-10-31 criteria provided, single submitter clinical testing

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