ClinVar Miner

Submissions for variant NM_001006630.2(CHRM2):c.860C>G (p.Thr287Ser)

gnomAD frequency: 0.00053  dbSNP: rs138193709
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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 RCV000215120 SCV000271584 uncertain significance not specified 2017-05-05 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Thr287Ser var iant in CHRM2 has been identified by our laboratory in 1 individual with cardiom yopathy and has been identified in 0.2% (46/24002) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs 138193709). This variant has been reported in ClinVar (Variation ID: 228517). Co mputational prediction tools and conservation analysis do not provide strong sup port for or against an impact to the protein. In summary, while the clinical sig nificance of the p.Thr287Ser variant is uncertain, its frequency suggests that i t is more likely to be benign.
GeneDx RCV000767185 SCV000621964 likely benign not provided 2020-06-05 criteria provided, single submitter clinical testing
Invitae RCV000555863 SCV000659701 likely benign Dilated Cardiomyopathy, Dominant 2023-12-19 criteria provided, single submitter clinical testing

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