ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1456C>G (p.Arg486Gly)

dbSNP: rs534543454
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726595 SCV000345743 uncertain significance not provided 2016-09-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000404503 SCV000596512 uncertain significance not specified 2016-08-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480060 SCV000894878 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3; Retinitis pigmentosa 76 2021-12-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001213923 SCV001385580 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2022-10-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 486 of the POMGNT1 protein (p.Arg486Gly). This variant is present in population databases (rs534543454, gnomAD 0.002%). 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: 291060). 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.
Ambry Genetics RCV002518155 SCV003747235 uncertain significance Inborn genetic diseases 2022-07-24 criteria provided, single submitter clinical testing The c.1456C>G (p.R486G) alteration is located in exon 17 (coding exon 16) of the POMGNT1 gene. This alteration results from a C to G substitution at nucleotide position 1456, causing the arginine (R) at amino acid position 486 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000726595 SCV003811728 uncertain significance not provided 2023-09-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833416 SCV002089599 uncertain significance Muscle eye brain disease 2020-08-24 no assertion criteria provided clinical testing

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