ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1932TAG[1] (p.Ser645del)

dbSNP: rs758008862
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667962 SCV000792494 uncertain significance Bardet-Biedl syndrome 12 2017-06-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000667962 SCV002815789 uncertain significance Bardet-Biedl syndrome 12 2022-03-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002530731 SCV003257013 uncertain significance Bardet-Biedl syndrome 2022-03-19 criteria provided, single submitter clinical testing This variant, c.1935_1937del, results in the deletion of 1 amino acid(s) of the BBS12 protein (p.Ser645del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs758008862, gnomAD 0.05%). 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: 552661). 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.
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV002530731 SCV003920710 uncertain significance Bardet-Biedl syndrome criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV003420181 SCV004108547 uncertain significance BBS12-related disorder 2023-08-01 criteria provided, single submitter clinical testing The BBS12 c.1935_1937delTAG variant is predicted to result in an in-frame deletion (p.Ser645del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.049% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-123664978-ATAG-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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