ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4471G>A (p.Glu1491Lys)

gnomAD frequency: 0.00001  dbSNP: rs1314169075
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Genomics Program, Sidra Medicine RCV001293060 SCV001434042 uncertain significance Primary dilated cardiomyopathy criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001294616 SCV001483497 uncertain significance Hypertrophic cardiomyopathy 14 2025-01-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1491 of the MYH6 protein (p.Glu1491Lys). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 978731). 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.
Ambry Genetics RCV002327610 SCV002636941 uncertain significance Cardiovascular phenotype 2023-09-22 criteria provided, single submitter clinical testing The c.4471G>A (p.E1491K) alteration is located in exon 31 (coding exon 29) of the MYH6 gene. This alteration results from a G to A substitution at nucleotide position 4471, causing the glutamic acid (E) at amino acid position 1491 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002486001 SCV002783084 uncertain significance Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-11-30 criteria provided, single submitter clinical testing

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