ClinVar Miner

Submissions for variant NM_005996.4(TBX3):c.1783T>G (p.Ser595Ala)

gnomAD frequency: 0.00085  dbSNP: rs763473739
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000407537 SCV000376561 benign Ulnar-mammary syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000407537 SCV002373572 benign Ulnar-mammary syndrome 2024-01-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003391086 SCV004132009 benign not provided 2024-06-01 criteria provided, single submitter clinical testing TBX3: BS1, BS2
Ambry Genetics RCV004668892 SCV005168698 uncertain significance Inborn genetic diseases 2024-06-03 criteria provided, single submitter clinical testing The c.1783T>G (p.S595A) alteration is located in exon 7 (coding exon 7) of the TBX3 gene. This alteration results from a T to G substitution at nucleotide position 1783, causing the serine (S) at amino acid position 595 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003940169 SCV004750421 likely benign TBX3-related disorder 2020-12-10 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).

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