ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1502C>T (p.Thr501Met) (rs138011813)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000735937 SCV000932058 pathogenic Bardet-Biedl syndrome 2018-12-04 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 501 of the BBS12 protein (p.Thr501Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs138011813, ExAC 0.03%). This variant has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 17160889, 20472660). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant has been reported to affect BBS12 protein function (PMID: 20498079, 20080638). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Laboratory of Medical Genetics, INSERM RCV000735937 SCV000839575 pathogenic Bardet-Biedl syndrome 2018-09-15 no assertion criteria provided provider interpretation

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