ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile) (rs397517478)

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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, Partners HealthCare Personalized Medicine RCV000039845 SCV000063536 likely benign not specified 2018-12-03 criteria provided, single submitter clinical testing The p.Ser33404Ile variant is classified as likely benign because it has been ide ntified in 0.01% (13/128318) of European chromosomes by gnomAD (http://gnomad.br oadinstitute.org). Serine (Ser) at position 33404Ile is not conserved in mammals or evolutionarily distant species and 1 mammal (star-nosed mole) carries an iso leucine (Ile) at this position, raising the possibility that this change may be tolerated. Additional computational prediction tools suggest that this variant m ay not impact the protein. ACMG/AMP Criteria applied: BS1_Supporting, BP4.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725604 SCV000338094 uncertain significance not provided 2015-12-22 criteria provided, single submitter clinical testing

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