ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.771T>C (p.Ala257=) (rs4611637)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081142 SCV000113050 benign not specified 2013-03-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000081142 SCV000269436 benign not specified 2014-11-26 criteria provided, single submitter clinical testing p.Ala257Ala in exon 10 of NEB: This variant is not expected to have clinical sig nificance because it has been identified in 83% (6805/8228) of European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu /EVS/; dbSNP rs4611637).
PreventionGenetics,PreventionGenetics RCV000081142 SCV000307391 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000600275 SCV000417051 benign Nemaline myopathy 2 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000081142 SCV000519513 benign not specified 2016-01-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000588686 SCV000697837 benign not provided 2017-02-27 criteria provided, single submitter clinical testing Variant summary: The NEB c.771T>C (p.Ala257Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide, which 4/5 splice prediction tools predict no significant impact on normal splicing. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 0.7437533 (89655/120544 (34969 homozygotes)), which indicates that the C allele is the major allele found in the general population. In addition, multiple clinical diagnostic laboratories classify the variant as Benign. Therefore, the variant of interest has been classified as Benign.
Athena Diagnostics Inc RCV000588686 SCV001144729 benign not provided 2019-02-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000081142 SCV000152030 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000600275 SCV000734153 benign Nemaline myopathy 2 no assertion criteria provided clinical testing

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