ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.2280G>A (p.Val760=)

gnomAD frequency: 0.00001  dbSNP: rs753948557
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003597304 SCV002335054 benign FG syndrome 2023-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004631945 SCV005133849 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-06-06 criteria provided, single submitter clinical testing The c.2280G>A variant (also known as p.V760V), located in coding exon 16 of the MED12 gene, results from a G to A substitution at nucleotide position 2280. This nucleotide substitution does not change the amino acid at codon 760. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice acceptor site. Based on data from gnomAD, the A allele has an overall frequency of 0.001% (2/202742) total alleles studied, with 2 hemizygote(s) observed. The highest observed frequency was 0.0022% (2/91895) of European (non-Finnish) alleles. Based on the available evidence, the clinical significance of this variant remains unclear.

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