ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.2062C>G (p.Pro688Ala) (rs750276279)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699447 SCV000828159 uncertain significance Nemaline myopathy 2 2019-10-02 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 688 of the NEB protein (p.Pro688Ala). The proline residue is moderately conserved and there is a small physicochemical difference between proline and alanine. This variant is present in population databases (rs750276279, ExAC 0.03%). This variant has not been reported in the literature in individuals with NEB-related disease. ClinVar contains an entry for this variant (Variation ID: 576848). 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: "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.

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