ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3287T>C (p.Ile1096Thr)

gnomAD frequency: 0.00004  dbSNP: rs762901493
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001314899 SCV001505449 uncertain significance Hypertrophic cardiomyopathy 14 2024-10-15 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1096 of the MYH6 protein (p.Ile1096Thr). This variant is present in population databases (rs762901493, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with MYH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1015964). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt MYH6 protein function with a negative predictive value of 80%. 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.
GeneDx RCV001564841 SCV001788069 uncertain significance not provided 2022-02-21 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 (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27535533)
Ambry Genetics RCV002322221 SCV002607018 uncertain significance Cardiovascular phenotype 2024-03-19 criteria provided, single submitter clinical testing The p.I1096T variant (also known as c.3287T>C), located in coding exon 23 of the MYH6 gene, results from a T to C substitution at nucleotide position 3287. The isoleucine at codon 1096 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002486233 SCV002786849 uncertain significance Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-10-06 criteria provided, single submitter clinical testing

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