ClinVar Miner

Submissions for variant NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) (rs541666319)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201571 SCV000256486 likely pathogenic Joubert syndrome 2 2015-02-23 criteria provided, single submitter research
Invitae RCV000869264 SCV001010680 benign Joubert syndrome 2020-09-19 criteria provided, single submitter clinical testing
Reproductive Health Research and Development,BGI Genomics RCV000201571 SCV001142421 likely benign Joubert syndrome 2 2020-01-06 no assertion criteria provided curation NM_001173990.2:c.216T>C in the TMEM216 gene has an allele frequency of 0.005 in South Asian subpopulation in the gnomAD database. It is a synonymous (silent) variant for which splicing prediction algorithms predict no impact to the splice consensus sequence nor the creation of a new splice site and the nucleotide is not highly conserved. Bachmann-Gagescu et al reported that a patient with Joubert syndrome harboring this variant (PMID: 26092869). Taken together, we interprete this variant as Benign/Likely benign variant. ACMG/AMP criteria applied: BS1, BP7, PP4.
Natera, Inc. RCV000201571 SCV001460231 benign Joubert syndrome 2 2020-09-16 no assertion criteria provided clinical testing

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