ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.71C>T (p.Pro24Leu) (rs185496567)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544716 SCV000640854 uncertain significance Nemaline myopathy 2 2019-12-12 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 24 of the NEB protein (p.Pro24Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs185496567, ExAC 0.1%) 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 (SIFT, Align-GVGD) suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function, and is found in the population at an appreciable frequency. This variant is not anticipated to cause disease; however, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV000544716 SCV001458315 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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