ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.6967C>T (p.Arg2323Trp)

gnomAD frequency: 0.00002  dbSNP: rs1204576083
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001240615 SCV001413580 uncertain significance Nemaline myopathy 2 2022-02-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 2323 of the NEB protein (p.Arg2323Trp). This variant is present in population databases (no rsID available, gnomAD 0.004%). 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: 966029). 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 RCV003132327 SCV003810225 uncertain significance not provided 2019-08-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004639526 SCV005146325 uncertain significance Inborn genetic diseases 2024-05-07 criteria provided, single submitter clinical testing The c.6967C>T (p.R2323W) alteration is located in exon 53 (coding exon 51) of the NEB gene. This alteration results from a C to T substitution at nucleotide position 6967, causing the arginine (R) at amino acid position 2323 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001240615 SCV002079660 uncertain significance Nemaline myopathy 2 2020-06-25 no assertion criteria provided clinical testing

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