ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.20851A>G (p.Ile6951Val)

dbSNP: rs1168345348
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001985973 SCV002257721 uncertain significance Nemaline myopathy 2 2021-05-11 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with NEB-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with valine at codon 6951 of the NEB protein (p.Ile6951Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine.
Revvity Omics, Revvity RCV003490989 SCV004236855 uncertain significance not provided 2023-07-25 criteria provided, single submitter clinical testing

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