Submissions for variant NM_001267550.2(TTN):c.41980C>T (p.Pro13994Ser)

gnomAD frequency: 0.00002  dbSNP: rs201232835

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002271877	SCV002556037	uncertain significance	not specified	2022-06-20	criteria provided, single submitter	clinical testing	Variant summary: TTN c.34276C>T (p.Pro11426Ser) results in a non-conservative amino acid change located in the I-band 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 3.6e-05 in 248472 control chromosomes. 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.34276C>T in individuals affected with Limb-Girdle Muscular Dystrophy, Type 2J and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Revvity Omics, Revvity	RCV003138141	SCV003819145	uncertain significance	not provided	2020-11-08	criteria provided, single submitter	clinical testing