ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.1994C>G (p.Ser665Cys)

gnomAD frequency: 0.00002  dbSNP: rs764981858
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001824527 SCV002074085 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing Identified in one individual from a cohort of individuals with neurodevelopmental disorders, although specific clinical information was not provided for this individual (Aspromonte M et al.Research Square); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: Aspromonte2023[Case Report])
Ambry Genetics RCV003163974 SCV003856525 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-03-06 criteria provided, single submitter clinical testing The p.S665C variant (also known as c.1994C>G), located in coding exon 14 of the MED12 gene, results from a C to G substitution at nucleotide position 1994. The serine at codon 665 is replaced by cysteine, an amino acid with dissimilar properties. Based on data from gnomAD, the G allele has an overall frequency of 0.001% (2/181228) total alleles studied, with no hemizygotes observed. The highest observed frequency was 0.03% (2/7464) of Ashkenazi Jewish alleles. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV003597222 SCV004343685 benign FG syndrome 2023-11-15 criteria provided, single submitter clinical testing

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