ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.18809G>A (p.Arg6270Gln) (rs372804439)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801958 SCV000941764 uncertain significance Nemaline myopathy 2 2019-10-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 6270 of the NEB protein (p.Arg6270Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs372804439, ExAC 0.2%). 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. RCV000801958 SCV001461670 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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