Submissions for variant NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys)

dbSNP: rs1588585570

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	RCV000853281	SCV000996113	likely pathogenic	Loeys-Dietz syndrome 1	2018-03-02	criteria provided, single submitter	clinical testing	This variant has not been reported or functionally characterized in the literature to our knowledge. In silico algorithms predict this change to be damaging. This variant is located in the serine/threonine kinase domain, where missense variation here was result in loss of function of the receptor activity (PMID: 21522183, 15731757, 18781618). However, this particular variant was not functionally characterized. Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, this variant is classified as likely pathogenic.
Revvity Omics, Revvity	RCV000853281	SCV003819479	uncertain significance	Loeys-Dietz syndrome 1	2021-02-08	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000853281	SCV004807760	uncertain significance	Loeys-Dietz syndrome 1	2024-03-29	criteria provided, single submitter	clinical testing