ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.2727C>T (p.Leu909=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003596160 SCV003300525 benign FG syndrome 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004642104 SCV005133864 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-05-13 criteria provided, single submitter clinical testing The c.2727C>T variant (also known as p.L909L), located in coding exon 20 of the MED12 gene, results from a C to T substitution at nucleotide position 2727. This nucleotide substitution does not change the leucine at codon 909. Based on data from gnomAD, the T allele has an overall frequency of 0.0017% (3/181692) total alleles studied, with 2 hemizygote(s) observed. The highest observed frequency was 0.0037% (3/81460) of European (non-Finnish) alleles. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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