ClinVar Miner

Submissions for variant NM_031885.4(BBS2):c.1207C>T (p.Arg403Cys) (rs766873519)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000665273 SCV000398059 uncertain significance Bardet-Biedl syndrome 2 2017-04-27 criteria provided, single submitter clinical testing The BBS2 c.1207C>T (p.Arg403Cys) missense variant has been reported in one study in which it is found in two consanguineous families of Arab origin with Bardet-Biedl syndrome (Abu-Safieh et al. 2012). In one family, the single affected proband carried the variant in a homozygous state, while in the second family the variant was carried in a heterozygous state in three affected siblings, who also carried variants in three other BBS genes of unknown zygosity. The p.Arg403Cys variant was absent from 96 ethnically matched controls but is reported at a frequency of 0.00010 in the European (non-Finnish) population of the Exome Aggregation Consortium. The evidence for this variant is limited. The p.Arg403Cys variant is therefore classified as a variant of unknown significance but suspicious for pathogenicity for Bardet-Biedl syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Counsyl RCV000665273 SCV000789365 uncertain significance Bardet-Biedl syndrome 2 2017-01-27 criteria provided, single submitter clinical testing

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