ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.1034T>C (p.Ile345Thr)

gnomAD frequency: 0.00002  dbSNP: rs761897354
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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 RCV001981899 SCV002217208 uncertain significance Bardet-Biedl syndrome 2022-08-08 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 345 of the BBS10 protein (p.Ile345Thr). This variant is present in population databases (rs761897354, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with BBS10-related conditions. ClinVar contains an entry for this variant (Variation ID: 1431980). 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 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 RCV005006255 SCV005629247 uncertain significance Bardet-Biedl syndrome 10 2024-02-07 criteria provided, single submitter clinical testing

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