ClinVar Miner

Submissions for variant NM_003283.6(TNNT1):c.31_32+1del (rs944152647)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000594658 SCV000701041 pathogenic not provided 2015-12-08 criteria provided, single submitter clinical testing
Invitae RCV000797421 SCV000936976 uncertain significance Nemaline myopathy 5 2018-12-03 criteria provided, single submitter clinical testing This variant, c.30_32delGGA, results in the deletion of 1 amino acid(s) of the TNNT1 protein (p.Glu12del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TNNT1-related conditions. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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