ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.1961G>A (p.Arg654Gln)

gnomAD frequency: 0.00001  dbSNP: rs763585076
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002224334 SCV002502572 uncertain significance not provided 2021-10-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487018 SCV002787993 uncertain significance Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-07-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004047208 SCV003884501 uncertain significance Cardiovascular phenotype 2023-01-18 criteria provided, single submitter clinical testing The c.1961G>A (p.R654Q) alteration is located in exon 16 (coding exon 14) of the MYH6 gene. This alteration results from a G to A substitution at nucleotide position 1961, causing the arginine (R) at amino acid position 654 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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