ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.7025G>T (p.Ser2342Ile)

gnomAD frequency: 0.00001  dbSNP: rs372132667
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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 RCV000531318 SCV000640850 uncertain significance Nemaline myopathy 2 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces serine with isoleucine at codon 2342 of the NEB protein (p.Ser2342Ile). The serine residue is moderately conserved and there is a large physicochemical difference between serine and isoleucine. This variant is present in population databases (rs372132667, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with NEB-related conditions. 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 RCV003133330 SCV003811659 uncertain significance not provided 2023-08-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000531318 SCV002079659 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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