ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.6554G>T (p.Gly2185Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001057447 SCV001221942 uncertain significance Nemaline myopathy 2 2019-12-18 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 2185 of the NEB protein (p.Gly2185Val). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs373439650, ExAC 0.02%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals with NEB-related conditions. 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: "Tolerated"; 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. RCV001057447 SCV001463542 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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