ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.2573C>T (p.Ala858Val) (rs372217127)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000326371 SCV000336882 uncertain significance not provided 2015-11-13 criteria provided, single submitter clinical testing
Invitae RCV000806848 SCV000946867 uncertain significance Nemaline myopathy 2 2019-12-19 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 858 of the NEB protein (p.Ala858Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs372217127, 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: 284306). 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.
Illumina Clinical Services Laboratory,Illumina RCV000806848 SCV001293804 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Natera, Inc. RCV000806848 SCV001452184 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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