ClinVar Miner

Submissions for variant NM_133642.5(LARGE1):c.1656G>C (p.Lys552Asn)

dbSNP: rs138573955
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712202 SCV000842639 uncertain significance not provided 2018-06-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000802066 SCV000941879 uncertain significance Muscular dystrophy-dystroglycanopathy type B6 2022-10-19 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 552 of the LARGE1 protein (p.Lys552Asn). This variant is present in population databases (rs138573955, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with LARGE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 586122). 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 LARGE1 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.
GeneDx RCV000712202 SCV002030810 uncertain significance not provided 2021-09-28 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
Revvity Omics, Revvity RCV000712202 SCV003816464 uncertain significance not provided 2021-03-29 criteria provided, single submitter clinical testing

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