ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.593T>A (p.Ile198Asn)

gnomAD frequency: 0.00001  dbSNP: rs267606972
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732507 SCV000860472 uncertain significance not provided 2018-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001294512 SCV001483392 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 2023-05-15 criteria provided, single submitter clinical testing 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. 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 POMT2 protein function. This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 198 of the POMT2 protein (p.Ile198Asn). This variant is present in population databases (rs267606972, gnomAD 0.0009%). This missense change has been observed in individual(s) with POMT2-related conditions (PMID: 17878207). ClinVar contains an entry for this variant (Variation ID: 3227).
OMIM RCV000003383 SCV000023541 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 2007-10-01 no assertion criteria provided literature only

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