ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.7025G>T (p.Ser2342Ile) (rs372132667)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531318 SCV000640850 uncertain significance Nemaline myopathy 2 2018-10-04 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%) but has not been reported in the literature in individuals with a NEB-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Unavailable"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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