ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.720-13_720-11del (rs397516480)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036611 SCV000060266 uncertain significance not specified 2011-10-14 criteria provided, single submitter clinical testing The 690-13_690-11delCTT variant has not been previously reported nor previously identified by our laboratory. This variant is located in the 3' splice region b ut does not affect the highly conserved -1 and -2 positions. Positions -3 and - 5 to -12 are part of the splicing consensus sequence and variants involving thes e positions can sometimes affect splicing.
GeneDx RCV000036611 SCV000565618 likely benign not specified 2016-02-25 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.
Color Health, Inc RCV001189709 SCV001357059 likely benign Cardiomyopathy 2019-03-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001284849 SCV001470941 uncertain significance none provided 2019-11-11 criteria provided, single submitter clinical testing The TNNT2 c.690-13_690-11delCTT variant (rs397516480), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 43663). This variant is found in the African population with an allele frequency of 0.10% (25/24942 alleles) in the Genome Aggregation Database. This is an intronic variant that deletes 3 nucleotides, and computational analyses (Alamut v.2.11) predict that this variant may impact splicing by weakening the nearby canonical acceptor splice site. Due to limited information, the clinical significance of the c.690-13_690-11delCTT variant is uncertain at this time.

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