ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1220C>T (p.Ser407Phe)

gnomAD frequency: 0.00002  dbSNP: rs1428784861
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044539 SCV001208342 uncertain significance Bardet-Biedl syndrome 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 407 of the BBS2 protein (p.Ser407Phe). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 842164). 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: "Deleterious"; 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.
Fulgent Genetics, Fulgent Genetics RCV002489585 SCV002787112 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2022-03-09 criteria provided, single submitter clinical testing

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