ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1852T>G (p.Ser618Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001207583 SCV001378945 uncertain significance Bardet-Biedl syndrome 2020-08-19 criteria provided, single submitter clinical testing This sequence change replaces serine with alanine at codon 618 of the BBS2 protein (p.Ser618Ala). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BBS2-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 C1). 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. 5

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