ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.1267A>G (p.Lys423Glu)

dbSNP: rs2099604411
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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 RCV001059314 SCV001223936 uncertain significance Nemaline myopathy 2 2022-08-16 criteria provided, single submitter clinical testing 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. 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"). ClinVar contains an entry for this variant (Variation ID: 854297). This variant has not been reported in the literature in individuals affected with NEB-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 423 of the NEB protein (p.Lys423Glu).
Ambry Genetics RCV002553858 SCV003667947 uncertain significance Inborn genetic diseases 2022-12-02 criteria provided, single submitter clinical testing The c.1267A>G (p.K423E) alteration is located in exon 15 (coding exon 13) of the NEB gene. This alteration results from a A to G substitution at nucleotide position 1267, causing the lysine (K) at amino acid position 423 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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