ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.21902C>T (p.Pro7301Leu) (rs367626762)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000449539 SCV000537834 uncertain significance Peripheral neuropathy 2016-08-22 criteria provided, single submitter clinical testing
GeneDx RCV000428659 SCV000529992 likely benign not specified 2017-05-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000641346 SCV000762987 uncertain significance Nemaline myopathy 2 2018-12-24 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 7301 of the NEB protein (p.Pro7301Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs367626762, ExAC 0.03%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals with NEB-related disease. ClinVar contains an entry for this variant (Variation ID: 387835). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; Align-GVGD: "Class C0"). 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.

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