ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.865G>C (p.Ala289Pro) (rs121918328)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042718 SCV001206418 likely pathogenic Bardet-Biedl syndrome 2019-11-29 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 289 of the BBS12 protein (p.Ala289Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be homozygous in an individual affected with Bardet-Biedl syndrome (PMID: 17160889). ClinVar contains an entry for this variant (Variation ID: 1150). 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.
Blueprint Genetics RCV001073577 SCV001239128 uncertain significance Retinal dystrophy 2019-06-29 criteria provided, single submitter clinical testing
OMIM RCV000001209 SCV000021359 pathogenic Bardet-Biedl syndrome 12 2007-01-01 no assertion criteria provided literature only

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