ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.19C>A (p.Arg7Ser)

dbSNP: rs184994140
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002716319 SCV003004338 uncertain significance Bardet-Biedl syndrome 2022-07-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 7 of the BBS9 protein (p.Arg7Ser). This variant is present in population databases (rs184994140, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with BBS9-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV005044951 SCV005666922 uncertain significance Bardet-Biedl syndrome 9 2024-01-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003916520 SCV004729875 uncertain significance BBS9-related disorder 2023-11-10 no assertion criteria provided clinical testing The BBS9 c.19C>A variant is predicted to result in the amino acid substitution p.Arg7Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.049% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-33185883-C-A). 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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