ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.3721G>T (p.Val1241Leu) (rs537769519)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000177784 SCV000229715 uncertain significance not provided 2014-10-28 criteria provided, single submitter clinical testing
Invitae RCV000795712 SCV000935182 uncertain significance Nemaline myopathy 2 2019-02-20 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 1241 of the NEB protein (p.Val1241Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine. This variant is present in population databases (rs537769519, ExAC 0.001%). This variant has not been reported in the literature in individuals with NEB-related disease. ClinVar contains an entry for this variant (Variation ID: 196899). 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. 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.

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