ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.23482A>C (p.Met7828Leu) (rs199957886)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516362 SCV000614171 uncertain significance not specified 2017-01-30 criteria provided, single submitter clinical testing
Invitae RCV000703154 SCV000832040 uncertain significance Nemaline myopathy 2 2019-04-12 criteria provided, single submitter clinical testing This sequence change replaces methionine with leucine at codon 7828 of the NEB protein (p.Met7828Leu). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and leucine. This variant is present in population databases (rs199957886, ExAC 0.05%). This variant has not been reported in the literature in individuals with NEB-related disease. ClinVar contains an entry for this variant (Variation ID: 447756). 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"; Align-GVGD: "Class C0"). 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. RCV000703154 SCV001456466 uncertain significance Nemaline myopathy 2 2020-01-09 no assertion criteria provided clinical testing

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