ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.842+1G>T (rs111377893)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152095 SCV000200746 likely pathogenic Hypertrophic cardiomyopathy 2015-12-04 criteria provided, single submitter clinical testing The c.821+1G>T variant in TNNT2 has been previously identified by our laboratory in 1 Caucasian teenager with HCM. It was absent from large population studies. Another substitution at the same nucleotide position (c.821+1G>A), which is clas sified as pathogenic, was shown to result in an abnormal protein with impaired f unction (Watkins 1995, Watkins 1996, Mukherjea 1999, Szczesna 2000, Gafurov 2004 ). The c.821+1G>T variant occurs in the same invariant region (+/- 1,2) of the s plice consensus sequence and is expected to result in an altered splicing leadin g to an abnormal protein similarly to the c.821+1G>A variant. In addition, block ing splicing at the zebrafish equivalent of this splice site provides some evide nce for a causative role (Becker 2011). In summary, although additional studies are required to fully establish its clinical significance, the c.821+1G>T varia nt is likely pathogenic.

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