ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.913T>G (p.Leu305Val)

dbSNP: rs1964310691
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001302388 SCV001491596 uncertain significance Bardet-Biedl syndrome 2022-02-23 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1005506). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 305 of the BBS2 protein (p.Leu305Val).
Natera, Inc. RCV001835452 SCV002089290 uncertain significance Bardet-Biedl syndrome 2 2021-07-06 no assertion criteria provided clinical testing

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