ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.9836A>G (p.Lys3279Arg)

dbSNP: rs772766917
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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 RCV001071483 SCV001236790 uncertain significance Nemaline myopathy 2 2019-04-11 criteria provided, single submitter clinical testing 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"). This variant has not been reported in the literature in individuals with NEB-related conditions. This variant is present in population databases (rs772766917, ExAC 0.002%). This sequence change replaces lysine with arginine at codon 3279 of the NEB protein (p.Lys3279Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Revvity Omics, Revvity RCV003132216 SCV003809602 uncertain significance not provided 2019-04-05 criteria provided, single submitter clinical testing

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