ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.149A>G (p.Asn50Ser)

gnomAD frequency: 0.00002  dbSNP: rs757121012
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000267469 SCV000344873 uncertain significance not provided 2016-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001320927 SCV001511735 uncertain significance Charcot-Marie-Tooth disease dominant intermediate B 2025-01-29 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 50 of the DNM2 protein (p.Asn50Ser). This variant is present in population databases (rs757121012, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with DNM2-related conditions. ClinVar contains an entry for this variant (Variation ID: 288108). Invitae Evidence 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 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 DNM2 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.
Revvity Omics, Revvity RCV000267469 SCV003830498 uncertain significance not provided 2019-06-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004975398 SCV005577975 likely benign Inborn genetic diseases 2024-08-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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