Submissions for variant NM_001267550.2(TTN):c.14339G>A (p.Ser4780Asn)

gnomAD frequency: 0.00003  dbSNP: rs147879266

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000733710	SCV000861803	uncertain significance	not provided	2018-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001089351	SCV001011839	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000733710	SCV002504179	likely benign	not provided	2020-10-15	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Revvity Omics, Revvity	RCV000733710	SCV003819172	uncertain significance	not provided	2021-02-06	criteria provided, single submitter	clinical testing
OMIM	RCV000013494	SCV000033741	pathogenic	Dilated cardiomyopathy 1G	2002-02-22	no assertion criteria provided	literature only
PreventionGenetics, part of Exact Sciences	RCV004734516	SCV005353190	uncertain significance	TTN-related disorder	2024-08-30	no assertion criteria provided	clinical testing	The TTN c.14339G>A variant is predicted to result in the amino acid substitution p.Ser4780Asn. This variant has been reported in an individual with dilated cardiomyopathy (described as p.Ser4465Asn, Itoh-Satoh et al. 2002. PubMed ID: 11846417). This variant is reported in 0.10% of alleles in individuals of East Asian descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.