ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.837C>T (p.Asn279=)

gnomAD frequency: 0.00001  dbSNP: rs397516393
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Total submissions: 5
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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 RCV000036367 SCV000060019 likely benign not specified 2012-04-10 criteria provided, single submitter clinical testing Asn279Asn in exon 9 of TPM1: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Asn279Asn in exon 9 of TPM1 (allele frequency = n/a)
Color Diagnostics, LLC DBA Color Health RCV001192356 SCV001360405 likely benign Cardiomyopathy 2019-05-16 criteria provided, single submitter clinical testing
GeneDx RCV001610313 SCV001841879 likely benign not provided 2020-04-16 criteria provided, single submitter clinical testing
Invitae RCV002054588 SCV002353760 likely benign Hypertrophic cardiomyopathy 2022-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162314 SCV003890579 likely benign Cardiovascular phenotype 2023-01-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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