ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.443A>G (p.Asn148Ser)

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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 RCV005017250 SCV005644072 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2024-02-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733869 SCV005357410 uncertain significance BBS2-related disorder 2024-06-19 no assertion criteria provided clinical testing The BBS2 c.443A>G variant is predicted to result in the amino acid substitution p.Asn148Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of African descent in gnomAD. A different nucleotide substitution affecting the same amino acid (p.Asn148Ile) has been reported in the homozygous state in two siblings with Bardet-Biedl Syndrome (Ali et al. 2021. PubMed ID: 33688495). 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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