ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.4115A>G (p.Asn1372Ser) (rs202009066)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198940 SCV000250592 uncertain significance not provided 2015-08-13 criteria provided, single submitter clinical testing The N1372S variant of unknown significance identified in the MED12 gene has not been published as a mutation or as a benign polymorphism to our knowledge. The N1372S variant was not observed in approximately 6,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. However, four heterozygous females and four hemizygous males were observed in 47,187 alleles from individuals of European (non-Finnish) descent in the Exome Aggregation Consortium (ExAC) database. This substitution occurs at a position that is conserved in mammals. However, the N1372S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Furthermore, no missense mutations in nearby residues have been reported in association with disease, indicating this region of the protein may be tolerant of change.Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. This variant was found in TAADV2-1,MED12
Ambry Genetics RCV000247718 SCV000320324 benign Cardiovascular phenotype 2017-11-03 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);In silico models in agreement (benign);General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV001085906 SCV001003373 benign FG syndrome 1 2019-12-31 criteria provided, single submitter clinical testing

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