ClinVar Miner

Submissions for variant NM_138691.3(TMC1):c.342G>A (p.Glu114=)

gnomAD frequency: 0.00002  dbSNP: rs370554600
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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 RCV000825842 SCV000967321 likely benign not specified 2019-02-26 criteria provided, single submitter clinical testing The p.Glu114Glu variant in TMC1 is classified as likely benign because it does not alter an amino acid residue, it is not located within the splice consensus sequence, and computational splice prediction tools do not predict an impact on splicing. It has been identified in 0.003% (1/34458) of Latino chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BP4, BP7.
Invitae RCV003768560 SCV004659886 likely benign not provided 2023-05-27 criteria provided, single submitter clinical testing

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