ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.7788G>T (p.Trp2596Cys)

gnomAD frequency: 0.00001  dbSNP: rs377602828
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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 RCV001217606 SCV001389452 uncertain significance Nemaline myopathy 2 2022-03-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with NEB-related conditions. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: 946695). This variant is present in population databases (rs377602828, gnomAD 0.002%). This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 2596 of the NEB protein (p.Trp2596Cys).
Natera, Inc. RCV001217606 SCV002079645 uncertain significance Nemaline myopathy 2 2020-11-30 no assertion criteria provided clinical testing

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