ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1052G>A (p.Arg351Gln)

gnomAD frequency: 0.00003  dbSNP: rs549715785
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619076 SCV000735773 benign Cardiovascular phenotype 2017-02-10 criteria provided, single submitter clinical testing This alteration is classified as 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001514355 SCV001722181 benign DiGeorge syndrome 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001558761 SCV001780774 likely benign not provided 2020-08-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27879657)

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