ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.30022A>G (p.Met10008Val)

gnomAD frequency: 0.00001  dbSNP: rs1553877757
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Total submissions: 2
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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 RCV000600896 SCV000712187 likely benign not specified 2018-03-22 criteria provided, single submitter clinical testing p.Met8764Val in exon 103 of TTN: This variant classified as likely benign becaus e computational prediction tools and conservation analysis do not predict an imp act on the protein. In addition, the majority of pathogenic variants reported in the TTN gene are loss-of-function variants located in the A-band or in other hi ghly expressed exons. This is a missense variant located in the I-band. ACMG/AMP Criteria applied: BP1; BP4.
Revvity Omics, Revvity RCV003488722 SCV004237102 uncertain significance not provided 2023-05-17 criteria provided, single submitter clinical testing

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