Submissions for variant NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys)

gnomAD frequency: 0.00063  dbSNP: rs144291418

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000378295	SCV000344088	uncertain significance	not provided	2016-09-07	criteria provided, single submitter	clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University	RCV001270113	SCV001448964	uncertain significance	Pelviscapular dysplasia	2019-03-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000378295	SCV002491429	likely benign	not provided	2025-01-06	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001270113	SCV004237883	likely benign	Pelviscapular dysplasia	2023-10-30	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV003151011	SCV003840101	uncertain significance	not specified	2022-08-01	no assertion criteria provided	clinical testing	DNA sequence analysis of the TBX15 gene demonstrated a sequence change, c.1007G>A, in exon 8 that results in an amino acid change, p.Arg336Lys. This sequence change does not appear to have been previously described in individuals with TBX15-related disorders. This sequence change has been described in the gnomAD database with a frequency of 0.53% in the Ashkenazi Jewish subpopulation, and 0.085% in the overall population (dbSNP rs144291418). The p.Arg336Lys change affects a highly conserved amino acid residue located in a domain of the TBX15 protein that is not known to be functional. The p.Arg336Lys substitution appears to be deleterious using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL).. Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Arg336Lys change remains unknown at this time.
PreventionGenetics, part of Exact Sciences	RCV003949934	SCV004757821	likely benign	TBX15-related disorder	2019-10-15	no assertion criteria provided	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).