ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1981C>A (p.Arg661Ser)

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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 RCV005017247 SCV005643989 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2024-01-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733821 SCV005355272 uncertain significance BBS2-related disorder 2024-05-28 no assertion criteria provided clinical testing The BBS2 c.1981C>A variant is predicted to result in the amino acid substitution p.Arg661Ser. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. 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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