ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.208G>A (p.Glu70Lys)

gnomAD frequency: 0.00004  dbSNP: rs201361648
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725149 SCV000334493 uncertain significance not provided 2015-08-19 criteria provided, single submitter clinical testing
GeneDx RCV000725149 SCV000620553 uncertain significance not provided 2025-06-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis suggests that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24282183)
Labcorp Genetics (formerly Invitae), Labcorp RCV000695339 SCV000823831 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2025-01-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 70 of the POMGNT1 protein (p.Glu70Lys). This variant is present in population databases (rs201361648, gnomAD 0.01%). 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: 282829). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt POMGNT1 protein function with a negative predictive value of 95%. 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.
Mendelics RCV002248508 SCV002519199 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002518862 SCV003700637 uncertain significance Inborn genetic diseases 2022-10-12 criteria provided, single submitter clinical testing The c.208G>A (p.E70K) alteration is located in exon 3 (coding exon 2) of the POMGNT1 gene. This alteration results from a G to A substitution at nucleotide position 208, causing the glutamic acid (E) at amino acid position 70 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000725149 SCV003811774 uncertain significance not provided 2019-02-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272277 SCV001454111 uncertain significance Muscle eye brain disease 2020-01-12 no assertion criteria provided clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816486 SCV005073311 uncertain significance Retinal dystrophy 2017-01-01 no assertion criteria provided clinical testing

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