ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.20098C>A (p.Leu6700Ile) (rs202139330)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000193093 SCV000248153 uncertain significance not specified 2014-04-29 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415257 SCV000492628 uncertain significance Muscular dystrophy; Progressive proximal muscle weakness; Limb pain 2015-09-15 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416246 SCV000493369 uncertain significance not provided 2019-04-01 criteria provided, single submitter clinical testing
GeneDx RCV000193093 SCV000531427 likely benign not specified 2016-11-21 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 RCV000687008 SCV000814556 uncertain significance Nemaline myopathy 2 2019-12-20 criteria provided, single submitter clinical testing This sequence change replaces leucine with isoleucine at codon 6700 of the NEB protein (p.Leu6700Ile). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and isoleucine. This variant is present in population databases (rs202139330, ExAC 0.1%), 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: 211584). 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.
Illumina Clinical Services Laboratory,Illumina RCV000687008 SCV001289003 uncertain significance Nemaline myopathy 2 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Natera, Inc. RCV000687008 SCV001460615 likely benign Nemaline myopathy 2 2020-04-30 no assertion criteria provided clinical testing

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