ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.5501G>A (p.Arg1834His)

gnomAD frequency: 0.00007  dbSNP: rs202132499
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001052711 SCV001216935 uncertain significance Hypertrophic cardiomyopathy 14 2024-11-02 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1834 of the MYH6 protein (p.Arg1834His). This variant is present in population databases (rs202132499, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. 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: 848866). 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 expected to disrupt MYH6 protein function with a positive 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 RCV002348405 SCV002652780 uncertain significance Cardiovascular phenotype 2024-09-24 criteria provided, single submitter clinical testing The c.5501G>A (p.R1834H) alteration is located in exon 36 (coding exon 34) of the MYH6 gene. This alteration results from a G to A substitution at nucleotide position 5501, causing the arginine (R) at amino acid position 1834 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002489626 SCV002775470 uncertain significance Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-08-25 criteria provided, single submitter clinical testing

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