ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.17627T>C (p.Leu5876Pro) (rs1181510782)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530115 SCV000640601 uncertain significance Nemaline myopathy 2 2017-05-30 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 5876 of the NEB protein (p.Leu5876Pro). The leucine residue is weakly conserved and there is a moderate physicochemical difference between leucine and proline. While this variant is not present in population databases (Exac no frequency), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with an 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 novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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