ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.21340C>T (p.Arg7114Trp) (rs186686151)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673360 SCV000798555 uncertain significance Nemaline myopathy 2 2018-03-13 criteria provided, single submitter clinical testing
Invitae RCV000673360 SCV001226432 uncertain significance Nemaline myopathy 2 2019-12-09 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 7114 of the NEB protein (p.Arg7114Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs186686151, ExAC 0.2%). This variant was observed in combination with a benign variant (p.Leu868Pro) in two siblings affected with intellectual disability, epilepsy, and congenital myopathy. This variant was also observed as heterozygous in the unaffected father and sister in the same family (PMID: 25296583). 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 RCV000673360 SCV001288884 uncertain significance Nemaline myopathy 2 2017-07-21 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Natera, Inc. RCV000673360 SCV001463296 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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