Submissions for variant NM_003242.6(TGFBR2):c.94+16273G>A

gnomAD frequency: 0.00003  dbSNP: rs781529108

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000443216	SCV000535730	uncertain significance	not provided	2017-11-13	criteria provided, single submitter	clinical testing	The R49K variant of uncertain significance in an alternate transcript of the TGFBR2 gene has not been published as pathogenic or been reported as benign to our knowledge. This variant has been observed in 4/124,190 alleles from individuals of European (non-Finnish) ancestry in large population cohorts (Lek et al., 2016). The R49K variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In addition, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV004022513	SCV005016408	uncertain risk allele	Diabetic retinopathy		criteria provided, single submitter	research	Potent mutations in TGFBR2 gene encodes the transforming growth factor that have been associated with angiogenesis and diabetic retinopathy. More clinical studies are needed for stronger association. However, more evidence is required to confer the association of this particular variant rs781529108 with diabetic retinopathy.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000443216	SCV002035130	uncertain significance	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000443216	SCV002036927	uncertain significance	not provided		no assertion criteria provided	clinical testing