ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.412-94del (rs35559054)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000585922 SCV000697561 benign not provided 2017-07-10 criteria provided, single submitter clinical testing Variant summary: The TNNT2 c.382-94delC variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 337/30938 control chromosomes at a frequency of 0.0108928, which is approximately 44 times the estimated maximal expected allele frequency of a pathogenic TNNT2 variant (0.00025), suggesting this variant is likely a benign polymorphism. This variant was reported in HCM patients without strong evidence for causality (Erdmann_CG_2003, Jaaskelainen_AM_2004). The variant of interest has not, to our knowledge, been reported by reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Due to the high frequency of this variant in the general population, the lack of impact on protein structure, and the lack of predicted impact on splicing, this variant has been classified as benign.
GeneDx RCV000585922 SCV000975263 likely benign not provided 2018-06-19 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.

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