ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.440G>A (p.Arg147His)

gnomAD frequency: 0.00003  dbSNP: rs776165339
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504514 SCV000596516 uncertain significance not specified 2015-09-08 criteria provided, single submitter clinical testing
Invitae RCV000543475 SCV000649970 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2022-07-14 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 147 of the POMGNT1 protein (p.Arg147His). This variant is present in population databases (rs776165339, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with POMGNT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 436365). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt POMGNT1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV001579233 SCV001806691 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579234 SCV001806692 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579235 SCV001806693 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579236 SCV001806694 uncertain significance Retinitis pigmentosa 76 2021-07-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275755 SCV001461205 uncertain significance Muscle eye brain disease 2020-09-16 no assertion criteria provided clinical testing

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