Submissions for variant NM_001379200.1(TBX1):c.238C>G (p.Pro80Ala)

gnomAD frequency: 0.00059  dbSNP: rs952890575

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000618793	SCV000736445	uncertain significance	Cardiovascular phenotype	2022-01-10	criteria provided, single submitter	clinical testing	The c.211C>G (p.P71A) alteration is located in exon 3 (coding exon 2) of the TBX1 gene. This alteration results from a C to G substitution at nucleotide position 211, causing the proline (P) at amino acid position 71 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001474595	SCV001678766	likely benign	DiGeorge syndrome	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001562331	SCV001785077	likely benign	not provided	2021-05-24	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences	RCV003945563	SCV004757487	likely benign	TBX1-related disorder	2023-06-16	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).