ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.994A>G (p.Asn332Asp)

dbSNP: rs2065827783
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001212441 SCV001384024 uncertain significance Bardet-Biedl syndrome 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 332 of the BBS4 protein (p.Asn332Asp). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BBS4-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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