ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.3081A>T (p.Lys1027Asn) (rs6735208)

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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 RCV000081134 SCV000113042 benign not specified 2013-04-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000081134 SCV000269426 benign not specified 2014-11-26 criteria provided, single submitter clinical testing This is a RefSeq error. The reference base (c.3081A) is the minor allele. This a llele (A) has been identified in 17% (1433/8260) of European American chromosome s and 57% (2230/3892) of African American chromosomes by the NHLBI Exome Sequenc ing Project (; dbSNP rs6735208) and thus meets criteria to be classified as benign.
PreventionGenetics,PreventionGenetics RCV000081134 SCV000307340 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265121 SCV000417023 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 RCV000081134 SCV000513911 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 RCV000589189 SCV000697823 benign not provided 2017-02-27 criteria provided, single submitter clinical testing Variant summary: The NEB c.3081A>T (p.Lys1027Asn) variant involves the alteration of a non-conserved nucleotide, which 2/3 in silico tools (SNPs&GO not captured due to query not functioning and Mutation Taster having a low p-value) predict a damaging outcome. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 0.749942 (90494/120668 (35419 homozygotes)), which indicates that the T 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 RCV000589189 SCV001144721 benign not provided 2019-03-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000081134 SCV000152009 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.
Natera, Inc. RCV000265121 SCV001455513 benign Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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