Submissions for variant NM_001267550.2(TTN):c.21995T>A (p.Leu7332Gln)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Revvity Omics, Revvity	RCV003142904	SCV003821674	uncertain significance	not provided	2019-04-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003235781	SCV003934145	uncertain significance	not specified	2023-05-08	criteria provided, single submitter	clinical testing	Variant summary: TTN c.18263T>A (p.Leu6088Gln) results in a non-conservative amino acid change located in the I-band region of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2.4e-05 in 246892 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.18263T>A in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter has assessed the variant since 2014: the variant was classified as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
PreventionGenetics, part of Exact Sciences	RCV004736311	SCV005347488	uncertain significance	TTN-related disorder	2024-07-09	no assertion criteria provided	clinical testing	The TTN c.21995T>A variant is predicted to result in the amino acid substitution p.Leu7332Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.039% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.