ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.4283A>G (p.Asn1428Ser) (rs565184120)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726562 SCV000345544 uncertain significance not provided 2016-09-12 criteria provided, single submitter clinical testing
GeneDx RCV000327254 SCV000527424 likely benign not specified 2016-05-24 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 RCV000811199 SCV000951453 uncertain significance Nemaline myopathy 2 2019-07-11 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 1428 of the NEB protein (p.Asn1428Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs565184120, ExAC 0.08%). This variant has not been reported in the literature in individuals with NEB-related disease. ClinVar contains an entry for this variant (Variation ID: 290884). 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: "Not Available"; 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.
Natera, Inc. RCV000811199 SCV001462196 uncertain significance Nemaline myopathy 2 2020-01-24 no assertion criteria provided clinical testing

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