ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.983G>A (p.Ser328Asn)

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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 RCV005006543 SCV005630897 uncertain significance Bardet-Biedl syndrome 4 2024-06-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004750125 SCV005367101 uncertain significance BBS4-related disorder 2024-09-27 no assertion criteria provided clinical testing The BBS4 c.983G>A variant is predicted to result in the amino acid substitution p.Ser328Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0033% 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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