ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.926A>C (p.Asn309Thr)

gnomAD frequency: 0.00001  dbSNP: rs1178593849
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001211261 SCV001382791 uncertain significance Bardet-Biedl syndrome 2022-02-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BBS4-related conditions. 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 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"). ClinVar contains an entry for this variant (Variation ID: 941472). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with threonine, which is neutral and polar, at codon 309 of the BBS4 protein (p.Asn309Thr).

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