ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.764C>G (p.Pro255Arg) (rs1553663195)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641357 SCV000762998 uncertain significance Nemaline myopathy 2 2017-12-15 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 255 of the NEB protein (p.Pro255Arg). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and arginine. 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 disease. 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: "Not available"; 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. RCV000641357 SCV001457270 uncertain significance Nemaline myopathy 2 2020-01-24 no assertion criteria provided clinical testing

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