ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val)

gnomAD frequency: 0.00004  dbSNP: rs199534074
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000307681 SCV000343975 uncertain significance not provided 2016-07-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000394019 SCV000357978 uncertain significance Limb-girdle muscular dystrophy, recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000306770 SCV000357979 uncertain significance Congenital Muscular Dystrophy, alpha-dystroglycan related 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000822620 SCV000963430 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 643 of the POMGNT1 protein (p.Phe643Val). This variant is present in population databases (rs199534074, gnomAD 0.02%). 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: 289590). 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 RCV001579239 SCV001806698 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 RCV001579240 SCV001806699 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579241 SCV001806700 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579242 SCV001806701 uncertain significance Retinitis pigmentosa 76 2021-07-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275227 SCV001460151 uncertain significance Muscle eye brain disease 2020-09-16 no assertion criteria provided clinical testing
GenomeConnect, ClinGen RCV001824723 SCV002075016 not provided 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 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 12-03-2020 by Lab or GTR ID 500188. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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