ClinVar Miner

Submissions for variant NM_020975.6(RET):c.262A>G (p.Ile88Val) (rs141679950)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563081 SCV000674769 uncertain significance Hereditary cancer-predisposing syndrome 2016-06-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Counsyl RCV000412432 SCV000489789 uncertain significance Multiple endocrine neoplasia, type 2b 2016-03-02 criteria provided, single submitter clinical testing
Counsyl RCV000410050 SCV000489790 uncertain significance Multiple endocrine neoplasia, type 2a 2016-03-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781813 SCV000920149 benign not specified 2018-02-16 criteria provided, single submitter clinical testing Variant summary: RET c.262A>G (p.Ile88Val) results in a conservative amino acid change located in the outside of any known functional domain or repeat of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The observed variant frequency within African control individuals in the gnomAD database is approximately 51.3 fold of the estimated maximal expected allele frequency for a pathogenic variant in RET causing Multiple Endocrine Neoplasia Type 2 phenotype (3.7e-05), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African origin. To our knowledge, no occurrence of c.262A>G in individuals affected with Multiple Endocrine Neoplasia Type 2 and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Based on the evidence outlined above, the variant was classified as benign.
Invitae RCV000168298 SCV000218978 likely benign Multiple endocrine neoplasia, type 2 2017-11-03 criteria provided, single submitter clinical testing
Mendelics RCV000410050 SCV000838366 likely benign Multiple endocrine neoplasia, type 2a 2018-07-02 criteria provided, single submitter clinical testing

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