ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.3181G>A (p.Val1061Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003764333 SCV004534033 benign FG syndrome 2023-06-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004634344 SCV005133879 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-06-07 criteria provided, single submitter clinical testing The c.3181G>A (p.V1061I) alteration is located in exon 22 (coding exon 22) of the MED12 gene. This alteration results from a G to A substitution at nucleotide position 3181, causing the valine (V) at amino acid position 1061 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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