ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.325A>G (p.Lys109Glu)

gnomAD frequency: 0.00001  dbSNP: rs1459243404
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001211479 SCV001383020 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 109 of the POMGNT1 protein (p.Lys109Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with POMGNT1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). 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.
Revvity Omics, Revvity RCV003132275 SCV003811736 uncertain significance not provided 2019-06-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833854 SCV002090230 uncertain significance Muscle eye brain disease 2021-05-27 no assertion criteria provided clinical testing

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