ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5396G>A (p.Ser1799Asn)

gnomAD frequency: 0.00001  dbSNP: rs776016983
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470016 SCV000543715 uncertain significance Aortic aneurysm, familial thoracic 4 2023-06-09 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MYH11 protein function. ClinVar contains an entry for this variant (Variation ID: 405475). This variant has not been reported in the literature in individuals affected with MYH11-related conditions. This variant is present in population databases (rs776016983, gnomAD 0.003%). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 1806 of the MYH11 protein (p.Ser1806Asn).
CeGaT Center for Human Genetics Tuebingen RCV003326433 SCV004033458 uncertain significance not provided 2023-07-01 criteria provided, single submitter clinical testing
GeneDx RCV003326433 SCV004035620 uncertain significance not provided 2023-09-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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