ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4912A>G (p.Lys1638Glu)

gnomAD frequency: 0.00001  dbSNP: rs1060500728
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463352 SCV000543731 uncertain significance Aortic aneurysm, familial thoracic 4 2023-05-17 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: 405481). This variant has not been reported in the literature in individuals affected with MYH11-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 1645 of the MYH11 protein (p.Lys1645Glu).
AiLife Diagnostics, AiLife Diagnostics RCV002223208 SCV002501290 uncertain significance not provided 2022-02-02 criteria provided, single submitter clinical testing

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