ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1150G>A (p.Gly384Ser)

gnomAD frequency: 0.00021  dbSNP: rs146234177
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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) RCV000658067 SCV000339026 uncertain significance not provided 2018-02-27 criteria provided, single submitter clinical testing
GeneDx RCV000658067 SCV000779838 uncertain significance not provided 2023-07-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 30564623, Munch2022[casereport])
Invitae RCV000694581 SCV000823032 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 406 of the POMT1 protein (p.Gly406Ser). This variant is present in population databases (rs146234177, gnomAD 0.03%). 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: 285835). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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 RCV000764806 SCV000895951 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
Athena Diagnostics Inc RCV000658067 SCV001145177 uncertain significance not provided 2018-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002519194 SCV003605627 uncertain significance Inborn genetic diseases 2022-05-04 criteria provided, single submitter clinical testing The c.1216G>A (p.G406S) alteration is located in exon 12 (coding exon 11) of the POMT1 gene. This alteration results from a G to A substitution at nucleotide position 1216, causing the glycine (G) at amino acid position 406 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity Omics RCV000658067 SCV003809699 uncertain significance not provided 2023-01-04 criteria provided, single submitter clinical testing

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