ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.4664G>A (p.Arg1555Lys) (rs183333679)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000194602 SCV000248160 uncertain significance not specified 2014-12-29 criteria provided, single submitter clinical testing
Counsyl RCV000667231 SCV000791651 uncertain significance Nemaline myopathy 2 2017-05-19 criteria provided, single submitter clinical testing
Invitae RCV000667231 SCV000954411 uncertain significance Nemaline myopathy 2 2019-11-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with lysine at codon 1555 of the NEB protein (p.Arg1555Lys). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and lysine. This variant is present in population databases (rs183333679, ExAC 0.009%). This variant has not been reported in the literature in individuals with NEB-related disease. ClinVar contains an entry for this variant (Variation ID: 211589). 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 lysine 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. RCV000667231 SCV001453501 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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