Submissions for variant NM_001267550.2(TTN):c.67571G>A (p.Ser22524Asn)

dbSNP: rs397517670

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040524	SCV000064215	uncertain significance	not specified	2012-06-06	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Benign. The Ser19956Asn var iant in TTN has not been reported in the literature nor previously identified by our laboratory. The affected amino acid (serine) is not well conserved in evolu tion, suggesting that this change may be tolerated. Other computational analyse s (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SI FT) do not provide strong support for or against an impact to the protein. Addit ional information is needed to fully assess the clinical significance of this va riant.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769973	SCV000901399	uncertain significance	Cardiomyopathy	2016-02-25	criteria provided, single submitter	clinical testing
Genetics and Genomics Program, Sidra Medicine	RCV001293133	SCV001434123	likely benign	Primary dilated cardiomyopathy		criteria provided, single submitter	research