ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.6208CAG[9] (p.Gln2075_Gln2076dup)

dbSNP: rs757160341
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705115 SCV000250584 likely benign not provided 2022-05-12 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Eurofins Ntd Llc (ga) RCV000200223 SCV000342962 likely benign not specified 2016-07-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317722 SCV000849468 benign Familial thoracic aortic aneurysm and aortic dissection 2017-04-28 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Ambry Genetics RCV000718604 SCV000851843 uncertain significance History of neurodevelopmental disorder 2010-12-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003595885 SCV001007528 benign FG syndrome 2025-01-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000200223 SCV006073138 uncertain significance not specified 2025-04-03 criteria provided, single submitter clinical testing Variant summary: MED12 c.6223_6228dupCAGCAG (p.Gln2075_Gln2076dup) results in an in-frame duplication that is predicted to duplicate *** amino acids into the encoded protein. The variant allele was found at a frequency of 0.00019 in 168423 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in MED12 causing MED12-Related Disorders, allowing no conclusion about variant significance. To our knowledge, no occurrence of c.6223_6228dupCAGCAG in individuals affected with MED12-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 213619). Based on the evidence outlined above, the variant was classified as uncertain significance.

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