ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs1964133123
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001207583 SCV001378945 uncertain significance Bardet-Biedl syndrome 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 618 of the BBS2 protein (p.Ser618Ala). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 938378). 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 C15"). 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.
PreventionGenetics, part of Exact Sciences RCV004733176 SCV005344200 uncertain significance BBS2-related disorder 2024-02-09 no assertion criteria provided clinical testing The BBS2 c.1852T>G variant is predicted to result in the amino acid substitution p.Ser618Ala. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. 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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