ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1710G>T (p.Leu570=) (rs767677287)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756336 SCV000884113 likely benign not provided 2017-05-12 criteria provided, single submitter clinical testing The MEN1 c.1695G>T; p.Leu565Leu variant (rs767677287) is reported in ClinVar as a likely benign variant (Variation ID: 241810), and is observed in the general population databases at a frequency of 0.001 percent (3/246216 alleles; Genome Aggregation Database). This is a synonymous change, the nucleotide is not well conserved, and computational algorithms (SpliceSiteFinder-like, MaxEntScan, NNSplice, GeneSplicer, Human Splicing Finder) do not predict this variant to impact splicing. Taken together this variant is considered likely benign. REFERENCES Link to ClinVar database for p.Leu565Leu:
Ambry Genetics RCV000564918 SCV000673653 likely benign Hereditary cancer-predisposing syndrome 2016-01-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000226729 SCV000291289 likely benign Multiple endocrine neoplasia, type 1 2017-12-21 criteria provided, single submitter clinical testing

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