ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5696A>G (p.Asn1899Ser) (rs79129097)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081156 SCV000556126 benign Aortic aneurysm, familial thoracic 4 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000755579 SCV000565280 uncertain significance not provided 2017-03-30 criteria provided, single submitter clinical testing The N1899S variant has not beenpublished as pathogenic or been reported as benign to our knowledge. Although the N1899S variant is a conservativeamino acid substitution, which is not likely to impact secondary protein structure as these residues share similarproperties, this substitution occurs at a position that is conserved through mammals. In silico analysis is inconsistentin its predictions as to whether or not the variant is damaging to the protein structure/function. Finally, the N1899Svariant has been observed at a significant frequency in large population cohorts, specifically 40/8640 alleles (0.5%)among East Asian individuals in the ExAC dataset (Lek et al., 2016; 1000 Genomes Consortium et al., 2015;Exome Variant Server), indicating that N1899S may be a common benign variant in this population.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755579 SCV000604352 likely benign not provided 2017-05-02 criteria provided, single submitter clinical testing The p.Asn1899Ser variant (rs79129097) has not been reported in association with aortopathy in medical literature or in gene specific variation databases. This variant is listed in the Genome Aggregation Database with an East Asian population frequency of 0.49 percent (identified on 93 out of 18,866 chromosomes). The asparagine at position 1899 is moderately conserved (Alamut v.2.8.1) and computational analyses of the effects of the p.Asn1899Ser variant on protein structure and function predict a neutral effect (SIFT: tolerated, Align GVGD: C0, PolyPhen-2: benign). Based on these observations, the p.Asn1899Ser variant is likely to be benign.
Color RCV000771372 SCV000903668 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-04-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001081156 SCV001279554 likely benign Aortic aneurysm, familial thoracic 4 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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