ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.2T>C (p.Met1Thr)

dbSNP: rs1553941150
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672117 SCV000797183 likely pathogenic Bardet-Biedl syndrome 12 2018-01-22 criteria provided, single submitter clinical testing
Invitae RCV002531306 SCV003028731 uncertain significance Bardet-Biedl syndrome 2022-05-01 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the BBS12 mRNA. The next in-frame methionine is located at codon 3. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BBS12-related conditions. ClinVar contains an entry for this variant (Variation ID: 556158). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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