ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.17075T>C (p.Val5692Ala)

gnomAD frequency: 0.00008  dbSNP: rs570039271
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000216027 SCV000272589 uncertain significance not specified 2016-03-17 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Val4448Ala va riant in TTN has not been previously reported in individuals with cardiomyopathy , but has been identified in 7/16508 South Asian chromosomes by the Exome Aggreg ation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs570039271). Vali ne (Val) at position 4448 is not conserved in mammals or evolutionarily distant species and 1 mammal (Brush-tailed rat) carries an Alanine (Ala), raising the po ssibility that this change may be tolerated. In summary, while the clinical sign ificance of the p.Val4448Ala variant is uncertain, these data suggest that it is more likely to be benign.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170648 SCV001333242 likely benign Cardiomyopathy 2020-01-08 criteria provided, single submitter clinical testing

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