ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4606G>A (p.Ala1536Thr)

gnomAD frequency: 0.00005  dbSNP: rs373815046
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000823185 SCV000964034 uncertain significance Aortic aneurysm, familial thoracic 4 2018-12-25 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with MYH11-related conditions. This variant is present in population databases (rs373815046, ExAC 0.02%). This sequence change replaces alanine with threonine at codon 1543 of the MYH11 protein (p.Ala1543Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine.
Ambry Genetics RCV002336721 SCV002635463 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-05-04 criteria provided, single submitter clinical testing The p.A1536T variant (also known as c.4606G>A), located in coding exon 32 of the MYH11 gene, results from a G to A substitution at nucleotide position 4606. The alanine at codon 1536 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and threonine is the reference amino acid in other 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.
Fulgent Genetics, Fulgent Genetics RCV002501143 SCV002816752 uncertain significance Aortic aneurysm, familial thoracic 4; Visceral myopathy 2; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 2021-09-14 criteria provided, single submitter clinical testing

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