ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.2059G>A (p.Ala687Thr)

gnomAD frequency: 0.00006  dbSNP: rs535544133
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195032 SCV000248585 uncertain significance not specified 2014-07-08 criteria provided, single submitter clinical testing
Invitae RCV000556653 SCV000649891 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2022-10-18 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 709 of the POMT1 protein (p.Ala709Thr). This variant is present in population databases (rs535544133, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with POMT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 211945). 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 POMT1 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.
Fulgent Genetics, Fulgent Genetics RCV000764808 SCV000895953 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002517970 SCV003573069 uncertain significance Inborn genetic diseases 2022-09-27 criteria provided, single submitter clinical testing The c.2125G>A (p.A709T) alteration is located in exon 20 (coding exon 19) of the POMT1 gene. This alteration results from a G to A substitution at nucleotide position 2125, causing the alanine (A) at amino acid position 709 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003320593 SCV004025498 uncertain significance not provided 2023-02-14 criteria provided, single submitter clinical testing In silico analysis supports 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: 22549409)

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