ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.208G>A (p.Val70Met)

gnomAD frequency: 0.00005  dbSNP: rs772248060
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000529975 SCV000642793 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-02-15 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000733548 SCV000861627 uncertain significance not provided 2018-06-05 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000733548 SCV002541995 uncertain significance not provided 2018-04-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420451 SCV002731054 likely benign Cardiovascular phenotype 2020-09-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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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