ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1021C>T (p.Arg341Trp)

gnomAD frequency: 0.00009  dbSNP: rs767395683
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001215430 SCV001387175 uncertain significance Bardet-Biedl syndrome 2022-02-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 341 of the BBS1 protein (p.Arg341Trp). This variant is present in population databases (rs767395683, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with BBS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 944920). 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: "Probably 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.
Fulgent Genetics, Fulgent Genetics RCV001278006 SCV002783097 uncertain significance Bardet-Biedl syndrome 1 2021-12-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278006 SCV001464994 uncertain significance Bardet-Biedl syndrome 1 2020-04-14 no assertion criteria provided clinical testing

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