ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.24538G>C (p.Ala8180Pro) (rs7575451)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081126 SCV000113034 benign not specified 2013-11-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000081126 SCV000269422 benign not specified 2014-11-26 criteria provided, single submitter clinical testing This is a RefSeq error. The reference base (c.24538G) is the minor allele. This allele (G) has been identified in 36% (2917/8198) of European American chromosom es and 40% (1501/3704) of African American chromosomes by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs7575451) and thus meets criteria to be classified as benign.
PreventionGenetics,PreventionGenetics RCV000081126 SCV000307323 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266979 SCV000416820 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 RCV000081126 SCV000519545 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 RCV000590547 SCV000697818 benign not provided 2017-02-27 criteria provided, single submitter clinical testing Variant summary: The NEB c.24538G>C (p.Ala8180Pro) variant involves the alteration of a conserved nucleotide, which 3/4 in silico tools (query not functioning for SNPs&Go) predict a "benign" outcome. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 0.6499357 (74779/115056 (24235 homozygotes)). Therefore, suggesting that the C allele is the major allele observed 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 RCV000590547 SCV001144719 benign not provided 2019-02-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000081126 SCV000152003 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.

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