ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.24220G>T (p.Val8074Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001055068 SCV001219433 uncertain significance Nemaline myopathy 2 2019-12-11 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 8074 of the NEB protein (p.Val8074Leu). The valine residue is weakly conserved and there is a small physicochemical difference between valine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NEB-related conditions. 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: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Natera, Inc. RCV001055068 SCV001459170 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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