ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.9587T>G (p.Leu3196Arg)

dbSNP: rs754001835
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000535649 SCV000640899 uncertain significance Nemaline myopathy 2 2019-06-21 criteria provided, single submitter clinical testing In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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"; PolyPhen-2: "Unknown"; Align-GVGD: "Class C0"). This variant is present in population databases (rs754001835, ExAC 0.01%) but has not been reported in the literature in individuals with a NEB-related disease. This sequence change replaces leucine with arginine at codon 3196 of the NEB protein (p.Leu3196Arg). The leucine residue is weakly conserved and there is a moderate physicochemical difference between leucine and arginine.

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