ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.21268C>G (p.Pro7090Ala) (rs371704528)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814521 SCV000954934 uncertain significance Nemaline myopathy 2 2019-12-05 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 7090 of the NEB protein (p.Pro7090Ala). The proline residue is moderately conserved and there is a small physicochemical difference between proline and alanine. This variant is present in population databases (rs371704528, ExAC 0.005%). This variant has been observed in an individual affected with nemaline myopathy, however no second NEB variant was identified (PMID: 15336686). This variant is also known as p.Pro5389Ala in the literature. 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.
Illumina Clinical Services Laboratory,Illumina RCV000814521 SCV001288886 uncertain significance Nemaline myopathy 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Natera, Inc. RCV000814521 SCV001463297 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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