ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.708C>G (p.Phe236Leu)

gnomAD frequency: 0.00001  dbSNP: rs1482951221
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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 RCV001880245 SCV002251392 uncertain significance Bardet-Biedl syndrome 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 236 of the BBS1 protein (p.Phe236Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC 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: 990064). 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.
Natera, Inc. RCV001278003 SCV001464991 uncertain significance Bardet-Biedl syndrome 1 2020-04-14 no assertion criteria provided clinical testing

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