ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.12143A>G (p.Lys4048Arg)

gnomAD frequency: 0.00002  dbSNP: rs1284970605
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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 RCV001999512 SCV002290973 uncertain significance Nemaline myopathy 2 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 4048 of the NEB protein (p.Lys4048Arg). This variant is present in population databases (no rsID available, gnomAD 0.005%). 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: 1505457). 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 RCV003134341 SCV003812168 uncertain significance not provided 2022-03-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004046149 SCV004978126 uncertain significance Inborn genetic diseases 2023-12-13 criteria provided, single submitter clinical testing The c.11414A>G (p.K3805R) alteration is located in exon 78 (coding exon 76) of the NEB gene. This alteration results from a A to G substitution at nucleotide position 11414, causing the lysine (K) at amino acid position 3805 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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