ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.10201T>A (p.Ser3401Thr) (rs199847072)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724439 SCV000231962 uncertain significance not provided 2015-02-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000242932 SCV000307182 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000242932 SCV000524744 likely benign not specified 2017-07-31 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 RCV000559927 SCV000640480 uncertain significance Nemaline myopathy 2 2019-12-30 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 3401 of the NEB protein (p.Ser3401Thr). The serine residue is moderately conserved and there is a small physicochemical difference between serine and threonine. This variant is present in population databases (rs199847072, ExAC 0.07%). This variant has not been reported in the literature in individuals with NEB-related disease. ClinVar contains an entry for this variant (Variation ID: 198367). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; 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 RCV000559927 SCV001294686 uncertain significance Nemaline myopathy 2 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Natera, Inc. RCV000559927 SCV001454948 uncertain significance Nemaline myopathy 2 2020-01-03 no assertion criteria provided clinical testing

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