ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.24201T>G (p.Asn8067Lys) (rs770023115)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000810320 SCV000950514 uncertain significance Nemaline myopathy 2 2018-08-25 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 8067 of the NEB protein (p.Asn8067Lys). The asparagine residue is weakly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is present in population databases (rs770023115, ExAC 0.05%). This variant has not been reported in the literature in individuals with NEB-related disease. 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: "Not Available"; 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. RCV000810320 SCV001454439 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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