ClinVar Miner

Submissions for variant NM_004608.4(TBX6):c.815G>A (p.Arg272Gln)

gnomAD frequency: 0.00078  dbSNP: rs201231713
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000910304 SCV001055160 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000910304 SCV001986022 uncertain significance not provided 2024-10-04 criteria provided, single submitter clinical testing Identified in two fetuses with suspected skeletal dysplasia; both had additional variants identified in TBX6 with uncertain pathogenicity (PMID: 35611473); Reported in the heterozygous and homozygous state in individuals with Mullerian anomalies, with at least one study demonstrating a significantly increased frequency in affected individuals as compared with controls (PMID: 23954021, 26610373, 30739119, 33469725, 38699388); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30739119, 26610373, 23954021, 33469725, 38699388, 38203291, 32819397, 35611473)
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV001264667 SCV001442866 uncertain significance Neurodevelopmental abnormality 2020-04-03 no assertion criteria provided clinical testing

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