ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.9875T>C (p.Ile3292Thr)

gnomAD frequency: 0.00002  dbSNP: rs186634689
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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 RCV001244624 SCV001417857 uncertain significance Nemaline myopathy 2 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 3292 of the NEB protein (p.Ile3292Thr). This variant is present in population databases (rs186634689, gnomAD 0.006%). 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: 969308). 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.
Fulgent Genetics, Fulgent Genetics RCV002480829 SCV002787361 uncertain significance Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 2021-07-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003132345 SCV003814118 uncertain significance not provided 2021-10-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001244624 SCV002077150 uncertain significance Nemaline myopathy 2 2020-01-24 no assertion criteria provided clinical testing

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