ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1700T>C (p.Ile567Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005015106 SCV005644000 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2024-04-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542486 SCV004795686 uncertain significance BBS2-related disorder 2024-01-12 no assertion criteria provided clinical testing The BBS2 c.1700T>C variant is predicted to result in the amino acid substitution p.Ile567Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of South Asian descent in gnomAD. 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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