ClinVar Miner

Submissions for variant NM_181486.4(TBX5):c.769G>A (p.Val257Met)

gnomAD frequency: 0.00001  dbSNP: rs200382742
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001110182 SCV001267583 benign Holt-Oram 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 RCV002067800 SCV002408840 benign Aortic valve disease 2 2021-06-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402501 SCV002669524 uncertain significance Cardiovascular phenotype 2021-11-15 criteria provided, single submitter clinical testing The c.769G>A (p.V257M) alteration is located in exon 8 (coding exon 7) of the TBX5 gene. This alteration results from a G to A substitution at nucleotide position 769, causing the valine (V) at amino acid position 257 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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