ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.1548_1549del (p.Ile516fs)

gnomAD frequency: 0.00017  dbSNP: rs398124432
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082312 SCV000114263 uncertain significance not provided 2013-09-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086996 SCV001009820 likely benign Bardet-Biedl syndrome 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000082312 SCV001988951 uncertain significance not provided 2019-06-28 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation as the last 4 amino acids are lost and replaced with 7 incorrect amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; This variant is associated with the following publications: (PMID: 15770229, 27491411)
PreventionGenetics, part of Exact Sciences RCV003905070 SCV004724432 likely benign BBS4-related disorder 2020-02-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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