ClinVar Miner

Submissions for variant NM_001006630.2(CHRM2):c.691G>A (p.Val231Ile)

gnomAD frequency: 0.00359  dbSNP: rs76394680
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000219483 SCV000270061 likely benign not specified 2015-06-26 criteria provided, single submitter clinical testing p.Val231Ile in exon 5 of CHRM2: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (299/65916) of European chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs76394680).
GeneDx RCV000219483 SCV000525609 benign not specified 2017-10-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000554962 SCV000659698 benign Dilated Cardiomyopathy, Dominant 2024-01-29 criteria provided, single submitter clinical testing

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