ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter)

gnomAD frequency: 0.00002  dbSNP: rs762047808
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665245 SCV000789334 likely pathogenic Bardet-Biedl syndrome 2 2017-01-26 criteria provided, single submitter clinical testing
Invitae RCV000802962 SCV000942813 pathogenic Bardet-Biedl syndrome 2023-12-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg594*) in the BBS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS2 are known to be pathogenic (PMID: 11285252, 20177705, 24608809, 26518167). This variant is present in population databases (rs762047808, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 27032803). ClinVar contains an entry for this variant (Variation ID: 550489). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002507153 SCV002803034 pathogenic Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2021-12-16 criteria provided, single submitter clinical testing
Eurofins-Biomnis RCV000665245 SCV003935097 pathogenic Bardet-Biedl syndrome 2 2022-11-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV000665245 SCV004214045 pathogenic Bardet-Biedl syndrome 2 2023-03-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV000665245 SCV002089262 pathogenic Bardet-Biedl syndrome 2 2021-01-05 no assertion criteria provided clinical testing

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