Submissions for variant NM_181486.4(TBX5):c.836G>A (p.Arg279Gln)

gnomAD frequency: 0.00087  dbSNP: rs115178276

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000244075	SCV000319891	likely benign	Cardiovascular phenotype	2019-03-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx	RCV000489388	SCV000577126	likely benign	not provided	2023-02-14	criteria provided, single submitter	clinical testing	Reported in a patient with limb anomalies consistent with Holt-Oram syndrome, but the authors were unsure whether p.(R279Q) contributed to the individual's phenotype (Debeer et al., 2007).; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 17534187)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083368	SCV001003038	likely benign	Aortic valve disease 2	2024-01-15	criteria provided, single submitter	clinical testing
Genetics and Genomics Program, Sidra Medicine	RCV001293126	SCV001434116	likely benign	Primary dilated cardiomyopathy		criteria provided, single submitter	research
PreventionGenetics, part of Exact Sciences	RCV003909886	SCV004722076	likely benign	TBX5-related disorder	2019-07-30	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).