ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4096A>T (p.Ile1366Phe)

dbSNP: rs147127121
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001776862 SCV002013770 uncertain significance not provided 2021-08-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001868813 SCV002203658 uncertain significance Aortic aneurysm, familial thoracic 4 2022-08-10 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1320883). This variant has not been reported in the literature in individuals affected with MYH11-related conditions. This variant is present in population databases (rs147127121, gnomAD 0.003%). This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1373 of the MYH11 protein (p.Ile1373Phe).
Fulgent Genetics, Fulgent Genetics RCV002506816 SCV002814448 uncertain significance Aortic aneurysm, familial thoracic 4; Visceral myopathy 2; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 2021-08-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004808120 SCV005430564 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-07-10 criteria provided, single submitter clinical testing This missense variant replaces isoleucine with phenylalanine at codon 1373 of the MYH11 protein. Computational prediction tools indicate that this variant has a neutral impact on protein structure and function. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MYH11-related disorders in the literature. This variant has been identified in 1/251066 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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