ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.9112A>G (p.Lys3038Glu)

gnomAD frequency: 0.00004  dbSNP: rs780293943
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000816202 SCV000956699 uncertain significance Nemaline myopathy 2 2022-03-18 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 3038 of the NEB protein (p.Lys3038Glu). This variant is present in population databases (rs780293943, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with NEB-related conditions. ClinVar contains an entry for this variant (Variation ID: 659232). 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.
Revvity Omics, Revvity RCV003141838 SCV003809593 uncertain significance not provided 2022-07-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000816202 SCV001454967 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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