ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.17234G>A (p.Arg5745Gln)

dbSNP: rs773556106
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000695609 SCV000824120 uncertain significance Nemaline myopathy 2 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 5745 of the NEB protein (p.Arg5745Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs773556106, ExAC 0.006%). This variant has not been reported in the literature in individuals affected 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: "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. RCV000695609 SCV002076993 uncertain significance Nemaline myopathy 2 2021-03-09 no assertion criteria provided clinical testing

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