Submissions for variant NM_001267550.2(TTN):c.7328A>G (p.Tyr2443Cys)

gnomAD frequency: 0.00006  dbSNP: rs369407160

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000730311	SCV000858039	uncertain significance	not provided	2017-11-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002369995	SCV002673373	uncertain significance	Cardiovascular phenotype	2020-02-11	criteria provided, single submitter	clinical testing	The p.Y2397C variant (also known as c.7190A>G), located in coding exon 29 of the TTN gene, results from an A to G substitution at nucleotide position 7190. The tyrosine at codon 2397 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx	RCV000730311	SCV003923949	uncertain significance	not provided	2022-11-08	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge
Athena Diagnostics Inc	RCV000730311	SCV004229400	uncertain significance	not provided	2023-06-14	criteria provided, single submitter	clinical testing	Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools disagree on the variant's effect on normal protein function.