ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.77C>T (p.Ala26Val)

dbSNP: rs866558676
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001248759 SCV001422268 uncertain significance Bardet-Biedl syndrome 2022-08-08 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 26 of the BBS1 protein (p.Ala26Val). This variant is not present in population databases (gnomAD no frequency). 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: 972671). 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 C25"). 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 RCV001830053 SCV002779892 uncertain significance Bardet-Biedl syndrome 1 2022-01-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830053 SCV002092359 uncertain significance Bardet-Biedl syndrome 1 2020-08-06 no assertion criteria provided clinical testing

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